P51692
PR
Gene name |
STAT5B |
Protein name |
Signal transducer and activator of transcription 5B |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6777 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for P51692
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6MBW | X-ray | 329 A | A/B | 136-703 | PDB |
| 6MBZ | X-ray | 321 A | A/B | 136-703 | PDB |
| AF-P51692-F1 | Predicted | AlphaFoldDB |
422 variants for P51692
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA8574378 RCV001344589 rs144024535 |
3 | V>M | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP |
|
RCV001202890 rs376041480 CA8574377 |
5 | I>L | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001253111 rs2080321538 |
31 | R>W | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399591941 RCV001205794 rs1187306164 |
60 | L>F | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001401938 RCV000733294 CA8574341 rs199645527 |
94 | L>F | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs199894785 COSM436630 CA8574326 RCV001267796 |
100 | R>C | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive Variant assessed as Somatic; 0.0 impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA399590888 RCV000642179 rs1177773526 |
107 | R>C | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2080259466 RCV001303859 |
118 | R>S | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2277619 VAR_052074 RCV001433639 CA8574284 |
130 | A>V | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000731369 rs148793995 RCV001086255 CA8574278 |
143 | Q>H | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs768919211 RCV000814771 CA290744834 COSM1383348 |
147 | T>M | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000006051 CA117691 rs121908502 |
152 | R>* | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs138255473 CA8574271 RCV001039345 |
155 | T>M | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_085463 RCV001254778 RCV000625745 rs1555549674 CA399588817 |
177 | Q>P | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive GHISID2; exhibits strong growth hormone-induced phosphorylation, but no subsequent nuclear localization; when forming homodimers with the wild-type protein, may also prevent its nuclear localization following growth hormone-stimulation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1031852875 CA290744774 RCV002554395 RCV001056148 |
180 | L>Q | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs762397922 RCV001796452 RCV001343173 CA8574223 |
213 | A>G | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000799135 CA8574224 rs377601290 |
213 | A>S | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA399588027 RCV001321869 rs1430791171 |
215 | L>S | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000815221 rs200900246 CA8574222 |
217 | R>H | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8574219 rs777110652 RCV001351627 |
226 | R>C | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000642181 rs917567542 CA290742731 |
231 | E>K | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1206601633 RCV001337157 CA399587731 |
235 | K>Q | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001351144 CA399587667 rs1418454797 |
241 | R>W | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA399587481 rs1314726288 RCV000701452 |
258 | R>Q | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000793190 CA8574202 rs759281260 |
263 | G>R | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs760893128 RCV000788820 CA399587405 RCV001217286 |
267 | P>S | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2080197805 RCV001095742 |
285 | I>V | STAT5B-related growth hormone insensitivity syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs376599040 RCV001325610 |
290 | R>P | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001037331 rs2080196988 |
309 | V>L | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8574160 RCV001796832 rs572536541 RCV000973748 RCV001796338 |
315 | E>A | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001218212 rs1598302816 CA399585635 |
344 | T>P | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8574129 RCV001088577 RCV000592373 rs143171571 |
353 | R>H | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8574124 RCV000817427 rs750053820 |
362 | V>M | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001042704 RCV002298747 rs761761205 RCV000703112 |
368 | Q>missing | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001052090 rs2080189921 |
373 | I>V | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001225389 rs2080189238 |
389 | R>H | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
rs945497674 CA290741401 RCV001062229 |
406 | H>Q | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001204975 rs2080179591 |
436 | T>I | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399581098 TCGA novel rs1598301960 RCV000800159 |
446 | S>F | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV000804056 rs1598301952 CA399581059 |
449 | S>N | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555548681 RCV000642180 CA399580743 |
470 | V>I | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001254780 VAR_085464 rs1555548680 CA399580712 RCV000625734 |
474 | Q>R | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant GHISID2; loss of DNA-binding ability; when forming homodimers with the wild-type protein, may prevent wild-type binding to DNA; consequently, disruption of transcriptional activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_085465 RCV001254779 RCV000625735 CA399580679 COSM1679825 rs1555548678 |
478 | A>V | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive prostate GHISID2; loss of DNA-binding ability; when forming homodimers with the wild-type protein, may prevent wild-type binding to DNA; consequently, disruption of transcriptional activity [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs2080168730 RCV001207139 |
488 | F>V | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8574007 rs200200711 RCV000694274 RCV002531491 |
510 | A>V | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs142918872 CA8573995 RCV000642178 |
531 | V>M | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA399578984 RCV000556627 rs1555548243 |
532 | F>L | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001246433 rs2080133932 |
540 | N>S | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777627496 RCV001227790 CA8573986 RCV002480748 |
556 | S>T | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001224393 rs2080117529 |
615 | F>L | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121908501 RCV000006048 CA117689 VAR_018728 |
630 | A>P | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive GHISID1; affects activation by growth hormone or interferon-gamma [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs938448224 COSM1716590 RCV000814132 CA290735986 RCV001090842 |
642 | N>H | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
| VAR_067368 | 646 | F>S | GHISID1; transcriptionally inactive [UniProt] | Yes | UniProt |
|
RCV000800005 CA399575774 rs1339796170 |
669 | V>M | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8573921 rs776285574 RCV000697526 |
673 | R>Q | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs778995803 RCV000690864 CA8573915 |
689 | E>K | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA399574145 RCV000814682 rs1567653213 |
700 | V>L | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000694293 RCV000788308 rs750095303 CA8573838 COSM4130087 |
721 | G>S | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive thyroid [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs929910807 CA290730008 RCV000824266 |
723 | A>T | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000804544 CA399573489 rs1598292098 |
726 | M>V | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM148274 RCV001399263 CA8573833 rs200042237 |
729 | A>S | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive stomach [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001235107 rs200042237 |
729 | A>T | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8573832 rs372734271 RCV001045313 |
739 | H>Y | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2080051897 RCV001349089 |
742 | M>T | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1238042644 RCV001223277 CA399572795 |
754 | D>N | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1489641088 RCV001316516 CA399572730 |
758 | D>N | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs780699949 CA8573802 RCV001294906 |
765 | V>I | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001046851 rs777230664 CA8573794 |
782 | I>L | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs752309096 RCV001051678 CA290729535 |
783 | P>L | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001325583 RCV001281001 CA8573792 rs760771231 |
785 | A>T | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs547016204 RCV001340298 CA8573790 |
787 | S>P | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA290749014 rs113461014 |
2 | A>T | No |
ClinGen Ensembl |
|
|
CA399594416 rs930684230 |
3 | V>A | No |
ClinGen TOPMed |
|
|
rs930684230 CA290748998 |
3 | V>G | No |
ClinGen TOPMed |
|
|
CA399594250 rs1157720602 |
9 | Q>L | No |
ClinGen gnomAD |
|
| TCGA novel | 16 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1197447612 CA399594016 |
18 | M>L | No |
ClinGen gnomAD |
|
|
rs935891734 CA399593947 |
20 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1187221247 CA399593957 |
20 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs935891734 CA290748980 RCV000996546 |
20 | A>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA399593830 rs1463676724 |
25 | H>Q | No |
ClinGen gnomAD |
|
|
rs868360255 CA290748974 |
27 | P>H | No |
ClinGen Ensembl |
|
|
rs1224349994 CA399593783 |
28 | I>V | No |
ClinGen gnomAD |
|
|
CA399593433 rs1281205149 |
40 | S>N | No |
ClinGen gnomAD |
|
|
CA8574374 rs767959957 |
41 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA290748957 rs1051056509 |
42 | A>P | No |
ClinGen TOPMed |
|
|
rs755543502 CA8574358 |
47 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8574357 rs750113759 |
47 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1598311254 CA399592083 |
49 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 51 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8574356 rs139130762 |
52 | Q>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs762274331 CA8574355 |
53 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA399591985 rs1176137138 |
55 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8574352 rs763601763 |
58 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759481948 CA8574349 |
63 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399591880 rs1598311185 |
65 | V>G | No |
ClinGen Ensembl |
|
|
CA290746924 rs750520285 |
66 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 67 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1272089211 CA399591827 |
70 | K>E | No |
ClinGen gnomAD |
|
|
CA399591811 rs1274658503 |
71 | K>E | No |
ClinGen TOPMed |
|
|
CA399591795 rs1214969218 |
72 | A>T | No |
ClinGen gnomAD |
|
|
rs1598311149 CA399591733 |
76 | V>G | No |
ClinGen Ensembl |
|
|
rs1598311137 CA399591713 |
78 | E>G | No |
ClinGen Ensembl |
|
|
CA8574346 rs747225467 |
80 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 81 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399591680 rs1598311125 |
81 | F>V | No |
ClinGen Ensembl |
|
| TCGA novel | 84 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355612617 CA399591548 |
88 | G>E | No |
ClinGen gnomAD |
|
|
rs1354487365 CA399591468 |
93 | Q>* | No |
ClinGen gnomAD |
|
|
CA8574342 rs749258998 |
93 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs911203694 CA290745795 |
96 | N>H | No |
ClinGen gnomAD |
|
|
CA8574328 rs766427008 |
97 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475711023 CA399590993 |
100 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1156986606 CA399590972 |
101 | C>* | No |
ClinGen gnomAD |
|
|
CA8574324 rs748978416 |
106 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs892570954 CA290745742 |
107 | R>H | No |
ClinGen TOPMed |
|
|
COSM1266910 CA8574323 rs775502922 |
110 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8574322 rs769688321 |
110 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1190893544 CA399590843 |
112 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA399590845 rs1190893544 |
112 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA399590811 rs1274666221 |
114 | Y>H | No |
ClinGen gnomAD |
|
|
rs756794353 CA8574319 |
115 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA399590707 rs1365904259 |
119 | L>F | No |
ClinGen gnomAD |
|
|
CA8574316 rs758843144 |
121 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374711620 CA290745719 |
124 | N>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1396882691 CA399590632 |
124 | N>K | No |
ClinGen gnomAD |
|
|
rs1318804601 CA399590614 |
125 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs919159376 CA399589711 |
127 | S>C | No |
ClinGen gnomAD |
|
|
rs919159376 CA290744910 |
127 | S>G | No |
ClinGen gnomAD |
|
|
rs1394344287 CA399589690 |
127 | S>R | No |
ClinGen gnomAD |
|
|
CA399589613 rs1312195490 |
132 | S>N | No |
ClinGen gnomAD |
|
|
CA399589608 rs770921312 |
132 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377209657 CA399589575 |
134 | A>V | No |
ClinGen gnomAD |
|
|
CA399589560 rs1194643096 |
135 | D>E | No |
ClinGen TOPMed |
|
|
rs760681474 CA8574282 |
135 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA399589528 rs1567662106 |
138 | S>F | No |
ClinGen Ensembl |
|
|
rs1035414287 CA290744906 |
138 | S>P | No |
ClinGen TOPMed |
|
|
CA399589481 rs941971537 |
141 | H>P | No |
ClinGen Ensembl |
|
|
rs941971537 CA290744902 |
141 | H>R | No |
ClinGen Ensembl |
|
|
rs771586939 CA8574279 |
143 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA8574277 rs778582220 |
145 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399589392 rs1475262534 |
146 | Q>R | No |
ClinGen TOPMed |
|
|
rs768919211 CA8574276 |
147 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780393081 CA8574274 |
150 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs149614939 CA8574273 |
152 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149614939 CA8574272 |
152 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399589263 rs1340562786 |
154 | V>A | No |
ClinGen gnomAD |
|
|
rs1334236273 CA399589232 |
157 | D>Y | No |
ClinGen gnomAD |
|
|
rs1293924779 CA399589216 |
158 | T>A | No |
ClinGen gnomAD |
|
|
CA399589212 rs1401493373 |
158 | T>K | No |
ClinGen TOPMed |
|
|
rs1028475555 CA290744812 |
160 | N>D | No |
ClinGen TOPMed |
|
|
CA8574268 rs764319884 |
160 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290744790 rs200923475 |
161 | E>G | No |
ClinGen 1000Genomes |
|
|
rs759250756 CA290744787 |
162 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8574266 rs753748722 |
167 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA8574265 rs759946844 |
169 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA290744780 rs976868044 |
173 | I>L | No |
ClinGen Ensembl |
|
|
CA290744779 rs1053189904 |
174 | I>T | No |
ClinGen TOPMed |
|
|
rs376439732 CA290744778 |
179 | S>N | No |
ClinGen ESP |
|
|
CA399588704 rs1459499647 |
183 | Q>H | No |
ClinGen gnomAD |
|
|
CA399588398 rs1303688239 |
184 | A>V | No |
ClinGen gnomAD |
|
|
CA399588392 rs1598304181 |
185 | Q>R | No |
ClinGen Ensembl |
|
|
CA8574237 rs746169589 |
187 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399588348 rs1324335332 |
188 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8574235 rs143092033 |
188 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8574236 rs143092033 |
188 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777956676 CA8574233 |
190 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA8574232 rs758519390 |
192 | L>P | No |
ClinGen ExAC |
|
|
CA399588268 rs1434454790 |
195 | Q>R | No |
ClinGen gnomAD |
|
|
rs1396130852 CA399588243 |
197 | R>C | No |
ClinGen gnomAD |
|
|
rs1326533398 CA399588241 |
197 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1195715633 CA399588221 |
199 | S>N | No |
ClinGen gnomAD |
|
|
rs779220548 CA8574230 |
200 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8574229 rs755979362 |
202 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA290742836 COSM436629 rs992474490 |
202 | T>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA8574228 rs139065819 |
203 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA290742831 rs1025430307 |
206 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1431009561 CA399588100 |
209 | V>A | No |
ClinGen TOPMed |
|
|
CA399588104 rs757272257 CA8574226 |
209 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1341873415 CA399588000 |
217 | R>C | No |
ClinGen gnomAD |
|
|
CA399587977 rs1156794966 |
219 | A>T | No |
ClinGen TOPMed |
|
|
rs764799602 CA8574221 |
221 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 222 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399587892 rs1322887541 |
224 | Q>H | No |
ClinGen TOPMed |
|
|
CA290742799 rs973881375 |
226 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8574217 rs761283639 COSM1227820 |
227 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1483070075 CA399587780 |
231 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 235 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1598303835 CA399587718 |
236 | T>P | No |
ClinGen Ensembl |
|
|
rs1183567046 CA399587665 |
241 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1183567046 CA399587662 |
241 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA399587600 rs1567660017 |
246 | I>V | No |
ClinGen Ensembl |
|
|
CA399587586 rs1447921953 |
247 | I>V | No |
ClinGen TOPMed |
|
|
CA399587557 rs1598303803 |
249 | D>G | No |
ClinGen Ensembl |
|
|
rs1390917136 CA399587540 |
251 | E>K | No |
ClinGen TOPMed |
|
|
CA399587514 rs918512265 |
253 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA399587487 rs1458765930 |
257 | R>W | No |
ClinGen gnomAD |
|
|
CA399587482 rs1270912751 |
258 | R>W | No |
ClinGen gnomAD |
|
|
rs1222622343 CA399587423 |
265 | G>D | No |
ClinGen gnomAD |
|
|
CA290742715 rs973848818 |
265 | G>S | No |
ClinGen TOPMed |
|
|
rs1342307720 CA399587416 |
266 | G>R | No |
ClinGen TOPMed |
|
|
rs760893128 COSM4130089 RCV000238653 CA8574199 |
267 | P>A | thyroid [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1449510470 CA399587400 |
267 | P>H | No |
ClinGen gnomAD |
|
|
rs1441773574 CA399587392 |
268 | P>S | No |
ClinGen TOPMed |
|
|
CA290742690 rs1018130718 |
269 | E>A | No |
ClinGen TOPMed |
|
|
CA399587382 rs1325539768 |
269 | E>Q | No |
ClinGen gnomAD |
|
|
rs773861955 CA8574198 |
274 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 277 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399587135 rs1430918084 |
284 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1198159138 CA399587080 |
287 | W>* | No |
ClinGen TOPMed |
|
|
rs375808218 CA8574170 |
288 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376599040 CA8574169 |
290 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399587043 rs1470880250 |
290 | R>W | No |
ClinGen TOPMed |
|
|
CA290742392 rs199982340 |
294 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8574168 rs754523154 |
294 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754523154 CA399586994 |
294 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748817046 CA8574167 |
295 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 295 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1167928008 CA399586974 |
296 | A>V | No |
ClinGen gnomAD |
|
|
CA399586958 rs1598303299 |
298 | H>P | No |
ClinGen Ensembl |
|
|
rs779603963 CA8574166 |
299 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA399586931 rs1423788315 |
300 | C>Y | No |
ClinGen gnomAD |
|
|
CA399586819 rs1201337548 |
307 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1484467931 CA399586790 |
308 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1598303285 CA399586779 |
309 | V>G | No |
ClinGen Ensembl |
|
|
CA8574164 rs750074223 |
310 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs768028861 CA8574163 |
311 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1231566032 CA399586674 |
315 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA399586649 rs1598303251 |
316 | V>G | No |
ClinGen Ensembl |
|
|
CA399586614 rs553989095 |
318 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8574157 rs553989095 |
318 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 322 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs539091753 CA8574155 |
323 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8574154 rs539091753 |
323 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1423899243 CA399586315 |
328 | V>M | No |
ClinGen gnomAD |
|
|
rs753213429 CA8574137 |
331 | T>M | No |
ClinGen ExAC |
|
|
rs1017541480 CA290742042 |
332 | F>L | No |
ClinGen TOPMed |
|
|
rs759562375 CA8574136 |
333 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs754879860 CA290742030 |
334 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA290742016 rs983871904 |
339 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8574133 rs760876362 |
340 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA399585492 rs1377455271 |
349 | A>T | No |
ClinGen gnomAD |
|
|
CA399585479 rs1310986199 |
349 | A>V | No |
ClinGen gnomAD |
|
|
CA8574130 rs762833594 |
353 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM247625 CA8574127 rs745315653 |
358 | G>R | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs778035877 CA8574123 |
363 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM1383345 rs1598302765 CA399585037 |
365 | N>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA399585012 rs1201024664 |
366 | P>A | No |
ClinGen gnomAD |
|
|
CA399584988 rs753166147 |
366 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753166147 CA8574121 |
366 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA8574120 rs779416144 |
367 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs144993426 CA290741935 |
368 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144993426 CA8574119 |
368 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs761761205 | 368 | Q>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761761205 | 368 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1182988772 CA399584858 |
369 | V>G | No |
ClinGen TOPMed |
|
|
rs28706683 CA290741908 |
371 | A>D | No |
ClinGen Ensembl |
|
|
CA399584778 rs1231852942 |
372 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 375 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399584666 rs1275124840 |
376 | E>K | No |
ClinGen gnomAD |
|
|
rs1456750265 CA399584610 |
377 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1437950343 CA399584560 |
378 | Q>L | No |
ClinGen gnomAD |
|
|
rs1349649185 CA399584545 |
379 | A>T | No |
ClinGen gnomAD |
|
|
CA290741889 rs1031612244 COSM1479582 |
381 | S>C | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA290741885 rs202077096 |
386 | E>G | No |
ClinGen 1000Genomes |
|
|
CA399584193 rs1363011053 |
387 | N>S | No |
ClinGen gnomAD |
|
|
rs199998167 CA290741884 |
388 | T>A | No |
ClinGen 1000Genomes |
|
|
CA399584164 rs199998167 |
388 | T>P | No |
ClinGen 1000Genomes |
|
|
CA399582435 rs1307918431 |
391 | D>N | No |
ClinGen TOPMed |
|
|
CA399582387 rs1200325629 |
392 | Y>S | No |
ClinGen TOPMed |
|
| TCGA novel | 393 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1042896775 CA290741410 |
396 | I>V | No |
ClinGen Ensembl |
|
|
CA399582188 rs1598302128 |
399 | N>T | No |
ClinGen Ensembl |
|
|
CA399582071 rs1185802989 |
402 | V>D | No |
ClinGen gnomAD |
|
| TCGA novel | 404 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399581974 rs1598302115 COSM3748644 |
405 | Y>S | stomach [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA399581956 rs1598302111 |
406 | H>P | No |
ClinGen Ensembl |
|
|
rs1472336970 CA399581959 |
406 | H>Y | No |
ClinGen gnomAD |
|
|
rs767714314 CA8574095 |
407 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs757419103 CA8574094 |
409 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757419103 CA290741398 |
409 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8574093 rs752592229 |
411 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399581719 rs1420861616 |
415 | H>R | No |
ClinGen TOPMed |
|
|
CA399581484 rs1270662163 |
420 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 421 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1227818 rs373996796 CA8574076 |
423 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM979454 rs781121963 CA8574075 |
430 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs757544937 CA8574074 |
430 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3819619 CA399581323 rs1426845770 |
431 | G>E | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1398529670 CA399581308 |
432 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 433 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8574073 rs751798472 |
433 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1310248568 CA399581284 |
434 | S>A | No |
ClinGen gnomAD |
|
|
CA399581278 COSM277501 rs1449203089 |
434 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 438 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399581120 rs1437308651 |
445 | E>Q | No |
ClinGen gnomAD |
|
|
CA399581097 rs1445014113 |
447 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs753839151 CA8574070 |
450 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1015271488 CA290741323 |
451 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 456 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1379515978 CA399580924 |
460 | K>E | No |
ClinGen gnomAD |
|
|
rs1598301242 CA399580805 |
461 | T>P | No |
ClinGen Ensembl |
|
|
rs1278812312 CA399580787 |
462 | L>P | No |
ClinGen gnomAD |
|
|
CA399580784 rs1598301221 |
463 | S>P | No |
ClinGen Ensembl |
|
|
rs1317088099 CA399580761 |
467 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8574032 rs201911697 |
468 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 471 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 475 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441507555 CA399580673 |
479 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA399580664 rs1477235764 |
481 | T>P | No |
ClinGen gnomAD |
|
|
rs747016816 CA8574031 |
482 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1161384430 CA399580653 |
483 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 485 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290738887 rs778265187 |
494 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1260876727 CA399579581 |
494 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 495 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399579487 rs1377189961 |
498 | V>A | No |
ClinGen gnomAD |
|
|
CA8574010 rs748404440 |
498 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs146678334 CA8574009 |
501 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1016642236 CA290738874 |
503 | L>P | No |
ClinGen TOPMed |
|
|
CA399579393 rs1598298706 |
505 | P>A | No |
ClinGen Ensembl |
|
|
rs1437881169 CA399579372 |
508 | C>Y | No |
ClinGen TOPMed |
|
|
CA399579363 rs1459756765 |
509 | E>G | No |
ClinGen gnomAD |
|
|
rs1459756765 CA399579362 |
509 | E>V | No |
ClinGen gnomAD |
|
|
rs1440513869 CA399579344 |
512 | N>S | No |
ClinGen gnomAD |
|
|
CA8574002 rs757850017 |
519 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs953945138 CA290738835 |
522 | N>H | No |
ClinGen TOPMed |
|
|
rs764726823 CA8574000 |
522 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 523 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399579155 rs1253487693 |
524 | G>V | No |
ClinGen gnomAD |
|
|
CA8573997 rs766828492 |
528 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 535 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375789837 CA8573994 |
535 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8573993 rs761733940 |
542 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA399578809 rs1297922816 |
542 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 543 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427570808 CA399578801 |
543 | S>N | No |
ClinGen TOPMed |
|
|
CA290738785 rs951963710 |
544 | H>R | No |
ClinGen Ensembl |
|
|
CA8573992 rs569804189 |
545 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776333900 CA399578780 |
546 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768821055 CA8573991 |
546 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8573990 rs749508222 |
546 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1201097347 CA399578771 |
548 | Y>H | No |
ClinGen gnomAD |
|
|
CA399578749 rs1260967235 |
551 | L>M | No |
ClinGen gnomAD |
|
|
rs1285898420 CA399578697 |
558 | F>L | No |
ClinGen gnomAD |
|
|
rs547984168 CA8573985 |
560 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8573973 rs561888537 |
564 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1219718677 CA399577915 |
566 | R>W | No |
ClinGen gnomAD |
|
|
rs781517078 CA8573972 |
567 | N>I | No |
ClinGen ExAC |
|
|
rs775637267 CA399577759 |
572 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 575 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447788988 CA399577632 |
576 | G>S | No |
ClinGen gnomAD |
|
|
rs1252551527 CA399577538 |
580 | V>A | No |
ClinGen TOPMed |
|
|
rs374070270 CA290737759 |
582 | K>R | No |
ClinGen ESP TOPMed |
|
| rs1202978138 | 584 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399577383 rs1598297383 |
587 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 621 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290737601 rs144158108 |
624 | I>M | No |
ClinGen Ensembl |
|
|
rs774286856 CA8573945 |
628 | T>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1238462910 CA399576524 |
634 | D>E | No |
ClinGen gnomAD |
|
|
CA8573944 rs367846125 |
636 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1315344365 CA399575979 |
639 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 642 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399575933 rs1397906312 |
645 | P>T | No |
ClinGen gnomAD |
|
|
rs1289236449 CA399575916 |
647 | T>I | No |
ClinGen gnomAD |
|
|
rs761602572 CA8573928 |
648 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 649 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1057936 CA399575873 |
653 | I>M | No |
ClinGen gnomAD |
|
|
CA8573927 rs201246187 |
654 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs148568485 CA290735972 |
658 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1188688435 CA399575842 |
659 | R>C | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 662 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8573924 rs370769279 |
664 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1716592 rs1325835231 CA399575798 |
665 | Y>F | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1295970206 CA399575763 |
670 | F>C | No |
ClinGen gnomAD |
|
|
CA8573922 rs773533491 |
673 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1598295682 CA399575738 |
674 | P>L | No |
ClinGen Ensembl |
|
|
CA8573919 rs747470866 |
679 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs758951069 CA8573917 |
687 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462829504 CA399575065 |
692 | T>A | No |
ClinGen gnomAD |
|
|
CA290735937 rs984395376 |
692 | T>I | No |
ClinGen TOPMed |
|
|
rs1335892852 CA399574258 |
694 | K>R | No |
ClinGen gnomAD |
|
|
rs200333924 CA290730397 |
695 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs779977175 CA8573868 |
696 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200738371 CA290730385 |
697 | D>G | No |
ClinGen 1000Genomes |
|
|
RCV000732454 rs1567653213 CA399574151 |
700 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs777259731 CA399573990 |
706 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs752681313 CA8573863 |
706 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 708 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8573844 COSM979451 rs752593400 |
714 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1198229318 CA399573657 |
715 | S>F | No |
ClinGen gnomAD |
|
|
CA399573653 rs1322296480 |
716 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 717 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs551009906 CA8573841 |
718 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399573607 rs1269922038 |
719 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA399573564 rs1328389806 |
722 | S>T | No |
ClinGen gnomAD |
|
|
CA8573836 rs139131471 |
724 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8573834 CA399573460 rs768971207 |
726 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399573402 RCV000996545 rs1598292092 |
729 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1167075556 CA399573397 |
730 | P>S | No |
ClinGen gnomAD |
|
|
CA290729999 rs941014817 |
734 | V>M | No |
ClinGen Ensembl |
|
|
CA8573831 rs769925436 |
742 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs985226739 CA290729990 |
743 | Y>F | No |
ClinGen Ensembl |
|
|
CA8573830 rs745998088 |
744 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 745 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8573812 rs760069627 |
753 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 753 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773512310 CA8573809 |
754 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA8573810 rs372909572 |
754 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779876449 CA8573805 |
761 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs146467656 CA399572598 |
764 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8573800 rs751214121 |
767 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177305205 CA399572566 |
767 | R>W | No |
ClinGen gnomAD |
|
|
CA8573799 rs763716770 |
768 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399572537 rs1598291646 |
769 | V>G | No |
ClinGen Ensembl |
|
|
rs1598291639 CA399572479 |
772 | L>F | No |
ClinGen Ensembl |
|
|
CA8573797 rs138115420 |
775 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1490632558 CA399572437 |
775 | R>W | No |
ClinGen gnomAD |
|
|
rs765607800 CA8573796 |
777 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399572378 rs1316589368 |
778 | D>G | No |
ClinGen gnomAD |
|
|
rs1351859924 CA399572279 |
783 | P>S | No |
ClinGen TOPMed |
|
|
rs748370281 CA8573789 |
787 | S>L | No |
ClinGen ExAC gnomAD |
2 associated diseases with P51692
[MIM: 245590]: Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive (GHISID1)
An autosomal recessive form of growth hormone insensitivity syndrome, a congenital disease characterized by short stature, growth hormone deficiency in the presence of normal to elevated circulating concentrations of growth hormone, resistance to exogeneous growth hormone therapy, and recurrent infections. Most, but not all, patients have features of immune dysregulation. {ECO:0000269|PubMed:13679528, ECO:0000269|PubMed:15827093, ECO:0000269|PubMed:22419735}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 618985]: Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant (GHISID2)
An autosomal dominant form of growth hormone insensitivity syndrome, a congenital disease characterized by short stature, growth hormone deficiency in the presence of normal to elevated circulating concentrations of growth hormone, resistance to exogeneous growth hormone therapy, and recurrent infections. GHISID2 patients usually have delayed bone age, delayed puberty, and decreased serum IGF1. Some patients may have features of mild immune dysregulation, such as eczema, increased serum IgE, asthma, or celiac disease. {ECO:0000269|PubMed:29844444}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive form of growth hormone insensitivity syndrome, a congenital disease characterized by short stature, growth hormone deficiency in the presence of normal to elevated circulating concentrations of growth hormone, resistance to exogeneous growth hormone therapy, and recurrent infections. Most, but not all, patients have features of immune dysregulation. {ECO:0000269|PubMed:13679528, ECO:0000269|PubMed:15827093, ECO:0000269|PubMed:22419735}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant form of growth hormone insensitivity syndrome, a congenital disease characterized by short stature, growth hormone deficiency in the presence of normal to elevated circulating concentrations of growth hormone, resistance to exogeneous growth hormone therapy, and recurrent infections. GHISID2 patients usually have delayed bone age, delayed puberty, and decreased serum IGF1. Some patients may have features of mild immune dysregulation, such as eczema, increased serum IgE, asthma, or celiac disease. {ECO:0000269|PubMed:29844444}. Note=The disease is caused by variants affecting the gene represented in this entry.
7 regional properties for P51692
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SH2 domain | 587 - 705 | IPR000980 |
| domain | STAT transcription factor, protein interaction | 2 - 126 | IPR013799 |
| domain | STAT transcription factor, all-alpha domain | 146 - 323 | IPR013800 |
| domain | STAT transcription factor, DNA-binding | 336 - 469 | IPR013801 |
| domain | STAT5a/5b, DNA-binding domain | 332 - 489 | IPR035858 |
| domain | STAT5b, SH2 domain | 573 - 717 | IPR035886 |
| domain | STAT5a/5b, coiled-coil domain | 139 - 330 | IPR046994 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| RNA polymerase II transcription regulator complex | A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| identical protein binding | Binding to an identical protein or proteins. |
| nuclear glucocorticoid receptor binding | Binding to a nuclear glucocorticoid receptor. |
| protein dimerization activity | The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
53 GO annotations of biological process
| Name | Definition |
|---|---|
| activated T cell proliferation | The expansion of a T cell population following activation by an antigenic stimulus. |
| B cell differentiation | The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. |
| cellular response to epidermal growth factor stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an epidermal growth factor stimulus. |
| cellular response to growth factor stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a growth factor stimulus. |
| cellular response to hormone stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. |
| cytokine-mediated signaling pathway | The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| defense response | Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. |
| development of secondary female sexual characteristics | The process whose specific outcome is the progression of the secondary female sexual characteristics over time, from their formation to the mature structures. In female humans, these include growth of axillary and pubic hair, breast development and menstrual periods. Their development occurs in response to sex hormone secretion. |
| development of secondary male sexual characteristics | The process whose specific outcome is the progression of the secondary male sexual characteristics over time, from their formation to the mature structures. In male humans, these include growth of axillary, chest, and pubic hair, voice changes, and testicular/penile enlargement. Development occurs in response to sex hormone secretion. |
| erythrocyte differentiation | The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. |
| female pregnancy | The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. |
| gamma-delta T cell differentiation | The process in which a relatively unspecialized hemopoietic cell acquires specialized features of a gamma-delta T cell. A gamma-delta T cell is a T cell that expresses a gamma-delta T cell receptor complex. |
| growth hormone receptor signaling pathway via JAK-STAT | The process in which STAT proteins (Signal Transducers and Activators of Transcription) are activated by members of the JAK (janus activated kinase) family of tyrosine kinases, following the binding of physiological ligands to the growth hormone receptor. Once activated, STATs dimerize and translocate to the nucleus and modulate the expression of target genes. |
| lactation | The regulated release of milk from the mammary glands and the period of time that a mother lactates to feed her young. |
| lipid storage | The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. |
| luteinization | The set of processes resulting in differentiation of theca and granulosa cells into luteal cells and in the formation of a corpus luteum after ovulation. |
| mast cell migration | The movement of a mast cell within or between different tissues and organs of the body. |
| mitotic cell cycle | Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. |
| myeloid cell apoptotic process | Any apoptotic process in a myeloid cell, a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. |
| natural killer cell differentiation | The process in which a relatively unspecialized cell acquires the specialized features of a natural killer cell. |
| natural killer cell mediated cytotoxicity | The directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors. |
| natural killer cell proliferation | The expansion of a natural killer cell population by cell division. |
| negative regulation of erythrocyte differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of erythrocyte differentiation. |
| negative regulation of myeloid cell apoptotic process | Any process that stops, prevents, or reduces the frequency, rate, or extent of a myeloid cell apoptotic process. |
| Peyer's patch development | The process whose specific outcome is the progression of Peyer's patches over time, from their formation to the mature structure. Peyer's patches are typically found as nodules associated with gut epithelium with distinct internal structures including B- and T-zones for the activation of lymphocytes. |
| positive regulation of activated T cell proliferation | Any process that activates or increases the rate or extent of activated T cell proliferation. |
| positive regulation of B cell differentiation | Any process that activates or increases the frequency, rate or extent of B cell differentiation. |
| positive regulation of erythrocyte differentiation | Any process that activates or increases the frequency, rate or extent of erythrocyte differentiation. |
| positive regulation of gamma-delta T cell differentiation | Any process that activates or increases the frequency, rate or extent of gamma-delta T cell differentiation. |
| positive regulation of inflammatory response | Any process that activates or increases the frequency, rate or extent of the inflammatory response. |
| positive regulation of interleukin-2 production | Any process that activates or increases the frequency, rate, or extent of interleukin-2 production. |
| positive regulation of mitotic cell cycle | Any process that activates or increases the rate or extent of progression through the mitotic cell cycle. |
| positive regulation of multicellular organism growth | Any process that activates or increases the frequency, rate or extent of growth of an organism to reach its usual body size. |
| positive regulation of natural killer cell differentiation | Any process that activates or increases the frequency, rate or extent of natural killer cell differentiation. |
| positive regulation of natural killer cell mediated cytotoxicity | Any process that activates or increases the frequency, rate or extent of natural killer cell mediated cytotoxicity. |
| positive regulation of natural killer cell proliferation | Any process that activates or increases the frequency, rate or extent of natural killer cell proliferation. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| progesterone metabolic process | The chemical reactions and pathways involving progesterone, a steroid hormone produced in the ovary which prepares and maintains the uterus for pregnancy. Also found in plants. |
| receptor signaling pathway via JAK-STAT | Any process in which STAT proteins (Signal Transducers and Activators of Transcription) and JAK (Janus Activated Kinase) proteins convey a signal to trigger a change in the activity or state of a cell. The receptor signaling pathway via JAK-STAT begins with activation of a receptor and proceeeds through STAT protein activation by members of the JAK family of tyrosine kinases. STAT proteins dimerize and subsequently translocate to the nucleus. The pathway ends with regulation of target gene expression by STAT proteins. |
| regulation of cell population proliferation | Any process that modulates the frequency, rate or extent of cell proliferation. |
| regulation of epithelial cell differentiation | Any process that modulates the frequency, rate or extent of epithelial cell differentiation. |
| regulation of multicellular organism growth | Any process that modulates the frequency, rate or extent of growth of the body of an organism so that it reaches its usual body size. |
| regulation of steroid metabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving steroids. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| response to estradiol | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen. |
| response to interleukin-15 | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-15 stimulus. |
| response to interleukin-2 | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-2 stimulus. |
| response to interleukin-4 | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-4 stimulus. |
| response to peptide hormone | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. |
| T cell differentiation in thymus | The process in which a precursor cell type acquires the specialized features of a T cell via a differentiation pathway dependent upon transit through the thymus. |
| T cell homeostasis | The process of regulating the proliferation and elimination of T cells such that the total number of T cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. |
| taurine metabolic process | The chemical reactions and pathways involving taurine (2-aminoethanesulfonic acid), a sulphur-containing amino acid derivative important in the metabolism of fats. |
| transcription by RNA polymerase II | The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P61635 | STAT3 | Signal transducer and activator of transcription 3 | Bos taurus (Bovine) | PR |
| Q6DV79 | STAT3 | Signal transducer and activator of transcription 3 | Gallus gallus (Chicken) | PR |
| Q14765 | STAT4 | Signal transducer and activator of transcription 4 | Homo sapiens (Human) | PR |
| P52630 | STAT2 | Signal transducer and activator of transcription 2 | Homo sapiens (Human) | PR |
| P40763 | STAT3 | Signal transducer and activator of transcription 3 | Homo sapiens (Human) | PR |
| P42224 | STAT1 | Signal transducer and activator of transcription 1-alpha/beta | Homo sapiens (Human) | PR |
| P42229 | STAT5A | Signal transducer and activator of transcription 5A | Homo sapiens (Human) | PR |
| P42230 | Stat5a | Signal transducer and activator of transcription 5A | Mus musculus (Mouse) | PR |
| P42228 | Stat4 | Signal transducer and activator of transcription 4 | Mus musculus (Mouse) | PR |
| P42225 | Stat1 | Signal transducer and activator of transcription 1 | Mus musculus (Mouse) | PR |
| Q9WVL2 | Stat2 | Signal transducer and activator of transcription 2 | Mus musculus (Mouse) | PR |
| P42227 | Stat3 | Signal transducer and activator of transcription 3 | Mus musculus (Mouse) | PR |
| Q19S50 | STAT3 | Signal transducer and activator of transcription 3 | Sus scrofa (Pig) | PR |
| P52631 | Stat3 | Signal transducer and activator of transcription 3 | Rattus norvegicus (Rat) | PR |
| Q9NAD6 | sta-1 | Signal transducer and activator of transcription 1 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAVWIQAQQL | QGEALHQMQA | LYGQHFPIEV | RHYLSQWIES | QAWDSVDLDN | PQENIKATQL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LEGLVQELQK | KAEHQVGEDG | FLLKIKLGHY | ATQLQNTYDR | CPMELVRCIR | HILYNEQRLV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| REANNGSSPA | GSLADAMSQK | HLQINQTFEE | LRLVTQDTEN | ELKKLQQTQE | YFIIQYQESL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RIQAQFGPLA | QLSPQERLSR | ETALQQKQVS | LEAWLQREAQ | TLQQYRVELA | EKHQKTLQLL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RKQQTIILDD | ELIQWKRRQQ | LAGNGGPPEG | SLDVLQSWCE | KLAEIIWQNR | QQIRRAEHLC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QQLPIPGPVE | EMLAEVNATI | TDIISALVTS | TFIIEKQPPQ | VLKTQTKFAA | TVRLLVGGKL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NVHMNPPQVK | ATIISEQQAK | SLLKNENTRN | DYSGEILNNC | CVMEYHQATG | TLSAHFRNMS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LKRIKRSDRR | GAESVTEEKF | TILFESQFSV | GGNELVFQVK | TLSLPVVVIV | HGSQDNNATA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TVLWDNAFAE | PGRVPFAVPD | KVLWPQLCEA | LNMKFKAEVQ | SNRGLTKENL | VFLAQKLFNN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SSSHLEDYSG | LSVSWSQFNR | ENLPGRNYTF | WQWFDGVMEV | LKKHLKPHWN | DGAILGFVNK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| QQAHDLLINK | PDGTFLLRFS | DSEIGGITIA | WKFDSQERMF | WNLMPFTTRD | FSIRSLADRL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GDLNYLIYVF | PDRPKDEVYS | KYYTPVPCES | ATAKAVDGYV | KPQIKQVVPE | FVNASADAGG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GSATYMDQAP | SPAVCPQAHY | NMYPQNPDSV | LDTDGDFDLE | DTMDVARRVE | ELLGRPMDSQ |
| WIPHAQS |