O14920
PR
Gene name |
IKBKB (IKKB) |
Protein name |
Inhibitor of nuclear factor kappa-B kinase subunit beta |
Names |
I-kappa-B-kinase beta, IKK-B, IKK-beta, IkBKB, I-kappa-B kinase 2, IKK2, Nuclear factor NF-kappa-B inhibitor kinase beta, NFKBIKB, Serine/threonine protein kinase IKBKB |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3551 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
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
165-187 (Activation loop from InterPro)
Target domain |
15-312 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
5 structures for O14920
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3BRT | X-ray | 225 A | A/C | 701-730 | PDB |
| 3BRV | X-ray | 220 A | A/C | 701-745 | PDB |
| 4E3C | X-ray | 398 A | A/B/C/D/E/F | 11-669 | PDB |
| 4KIK | X-ray | 283 A | A/B | 2-664 | PDB |
| AF-O14920-F1 | Predicted | AlphaFoldDB |
505 variants for O14920
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001301667 rs1807917822 |
30 | I>M | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001321633 rs771764280 CA4731607 |
72 | N>S | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA175989806 RCV000820871 rs200136227 |
77 | R>Q | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs200048037 RCV001476946 CA4731612 |
83 | M>V | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs763432993 CA4731615 RCV001225912 |
89 | N>S | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1812326855 RCV001328854 |
105 | R>W | Immunodeficiency 15a [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805394 CA4731640 COSM379453 rs139712776 |
118 | R>Q | lung Severe combined immunodeficiency due to IKK2 deficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1813081444 RCV001314826 |
129 | I>V | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220033 rs1425985153 CA371094482 |
154 | Q>R | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA371094691 RCV000651949 rs1554518965 |
170 | A>V | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000702887 CA4731710 rs749952717 RCV002533670 |
174 | D>E | Inborn genetic diseases Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1563340753 RCV000722132 VAR_081275 CA371080512 |
203 | V>I | Immunodeficiency 15a Variant assessed as Somatic; impact. IMD15A; gain-of-function mutation resulting in increased activation of NF-kappa-B signaling pathway [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001232663 rs201023733 CA4731738 |
217 | T>M | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200288567 CA4731740 RCV001230894 |
225 | N>S | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA371083022 rs1193171808 RCV000814748 |
234 | K>E | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs201052871 CA4731782 RCV000542774 |
240 | E>K | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs774103270 RCV001234111 CA4731783 |
244 | V>I | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001056813 CA371083201 rs1585747711 |
251 | G>A | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371083213 rs140074007 RCV001062913 CA4731788 |
253 | V>L | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000144958 rs200296680 CA171025 |
272 | R>* | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4731824 RCV000984703 rs200841053 |
272 | R>Q | Variant assessed as Somatic; 0.0 impact. Aganglionic megacolon [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs200531993 CA4731825 RCV001060357 |
274 | E>K | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001320641 rs1818662984 |
280 | M>I | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001230860 rs1818665697 RCV001565442 |
286 | R>* | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200322650 CA4731829 RCV001043824 |
293 | T>M | Variant assessed as Somatic; 0.0 impact. Severe combined immunodeficiency due to IKK2 deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001205248 rs759786790 CA4731831 |
294 | Y>C | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001334931 CA4731832 rs186203343 |
296 | P>L | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1304501516 RCV001212462 CA371084423 |
301 | K>R | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001239260 CA4731833 rs140200494 |
306 | I>V | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs141351312 RCV000688292 CA4731849 |
313 | H>R | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4731852 RCV000700599 rs200044839 |
314 | I>T | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201912118 CA4731851 RCV001211013 |
314 | I>V | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1818752101 RCV001345529 |
317 | M>T | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1263837874 CA371085513 RCV001307171 |
362 | I>V | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001068598 rs763596106 CA4731878 |
366 | P>L | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_040567 RCV000809770 rs56411242 CA4731879 |
369 | Q>R | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA4731883 rs758806135 RCV001062210 |
374 | G>S | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4731921 RCV000816869 rs148097786 |
397 | Y>C | Variant assessed as Somatic; 0.0 impact. Severe combined immunodeficiency due to IKK2 deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA4731926 rs368737022 RCV001201608 |
412 | C>S | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1221917553 RCV000824434 CA371087508 |
413 | I>N | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs886041036 RCV000088681 |
432 | Q>missing | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000804515 rs200485393 CA4731964 |
446 | R>Q | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs202136671 COSM1210456 CA4731963 RCV000699761 |
446 | R>W | large_intestine Severe combined immunodeficiency due to IKK2 deficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA371088682 RCV001202555 rs1286940689 |
454 | A>T | Variant assessed as Somatic; 0.0 impact. Severe combined immunodeficiency due to IKK2 deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs141839189 RCV000651947 CA4731994 |
464 | C>R | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA371090490 RCV000988056 rs1184918253 |
489 | S>I | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs115698972 RCV000651951 CA4732009 |
502 | E>K | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA371090625 RCV000810381 rs1585781141 |
507 | S>P | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1378740755 RCV000824209 CA371090725 COSM454583 |
518 | E>K | Variant assessed as Somatic; 0.0 impact. breast Severe combined immunodeficiency due to IKK2 deficiency [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA4732042 VAR_040568 RCV000556246 rs2272736 |
526 | R>Q | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4732058 rs147186110 RCV000924974 |
529 | E>K | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000651955 rs140485496 CA4732060 |
536 | R>W | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001309176 rs1326176524 CA371091298 |
553 | G>A | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000651950 CA4732073 CA4732074 rs149701177 |
557 | G>R | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs754822259 CA4732075 RCV000791666 RCV001759487 |
559 | T>M | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001323123 rs1182623073 |
559 | T>S | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1195581989 CA371091398 RCV001308280 |
560 | L>P | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs772006031 RCV001210893 CA4732119 |
600 | S>G | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1563364138 CA371092501 RCV000703132 |
605 | V>L | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371092524 rs764627236 RCV000660481 |
607 | V>L | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002551480 rs764627236 CA4732125 RCV001040825 |
607 | V>M | Inborn genetic diseases Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4732127 RCV001307393 rs200738579 |
610 | T>M | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs753922163 RCV000785097 CA4732153 |
645 | R>W | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001053640 rs1820663869 |
667 | G>A | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000959026 RCV001796334 rs78448523 RCV001796827 CA4732177 |
676 | M>I | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001242622 rs1212103006 CA371093792 |
679 | S>F | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs199897983 CA4732184 RCV000813749 |
693 | T>M | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000660482 CA4732187 rs202226005 |
696 | N>S | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs753511458 CA4732200 RCV000800778 RCV001814238 |
707 | E>K | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_040569 rs34309584 RCV001514175 CA4732202 |
710 | A>T | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs150441824 RCV001337994 CA4732207 |
723 | I>M | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001056897 rs555312351 |
735 | T>K | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4732213 rs555312351 RCV002545964 |
735 | T>M | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000973696 rs201036758 CA4732232 |
738 | D>N | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1821622693 RCV001227254 |
742 | L>missing | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000651948 CA175980337 rs201869683 |
743 | Q>L | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs774937660 RCV000814955 |
748 | E>missing | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs202054179 CA4732242 RCV000923229 |
755 | A>S | Severe combined immunodeficiency due to IKK2 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1298511635 CA371088058 |
2 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA175977200 rs201805807 |
5 | P>L | No |
ClinGen gnomAD |
|
|
rs1585485440 CA371088158 |
6 | S>F | No |
ClinGen Ensembl |
|
|
CA4731537 rs748672861 |
9 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159923087 CA371088247 |
10 | Q>P | No |
ClinGen gnomAD |
|
|
rs1388981077 CA371088276 |
11 | T>I | No |
ClinGen gnomAD |
|
|
CA371088312 rs1458065391 |
14 | A>T | No |
ClinGen gnomAD |
|
|
rs976797635 CA175977207 |
14 | A>V | No |
ClinGen Ensembl |
|
|
CA4731539 rs778171429 |
19 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA371088425 rs1443757982 |
20 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs749580126 CA4731540 |
20 | R>L | No |
ClinGen ExAC TOPMed |
|
|
rs1443757982 CA371088421 |
20 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA371088449 rs1302668330 |
22 | G>R | No |
ClinGen gnomAD |
|
|
CA371088563 rs1262686100 |
29 | V>I | No |
ClinGen gnomAD |
|
|
CA371089009 rs1255966361 |
30 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 34 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750775522 CA4731580 |
36 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747115965 CA4731583 |
38 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4731582 rs780080409 |
38 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs768610309 CA4731584 |
39 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 44 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371092472 rs1363685414 |
47 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs777820763 CA4731585 |
47 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA4731586 rs749197733 |
49 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4731587 rs770750173 |
50 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770750173 CA371092509 |
50 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774165537 CA4731588 |
52 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4731589 rs201288942 |
53 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1580212 rs1214631042 CA371092532 |
53 | R>W | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1485660870 CA371092548 |
54 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1000600256 CA175988619 |
55 | R>Q | No |
ClinGen TOPMed |
|
|
CA371092561 rs1454239284 |
56 | E>Q | No |
ClinGen gnomAD |
|
|
rs774942847 CA4731591 |
57 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA371092576 rs1270112519 |
57 | R>W | No |
ClinGen TOPMed |
|
|
CA175988649 rs910056341 |
63 | Q>H | No |
ClinGen TOPMed |
|
|
CA460557956 rs1440778745 |
68 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA371092890 rs1277286371 |
70 | H>Y | No |
ClinGen gnomAD |
|
|
rs775274100 CA4731608 |
74 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA371093022 rs1292366684 |
76 | A>D | No |
ClinGen gnomAD |
|
|
rs912645794 CA175989801 |
77 | R>* | No |
ClinGen TOPMed |
|
|
CA371093030 rs200136227 |
77 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4731609 rs746623468 |
78 | D>E | No |
ClinGen ExAC |
|
|
rs1227005284 CA371093048 |
78 | D>V | No |
ClinGen gnomAD |
|
|
rs1585602245 CA371093064 |
79 | V>A | No |
ClinGen Ensembl |
|
|
CA371093087 rs1585602289 COSM144951 COSM144952 |
81 | E>Q | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA371093102 rs1282624870 |
82 | G>R | No |
ClinGen TOPMed |
|
|
CA371093131 rs1249723433 |
83 | M>I | No |
ClinGen gnomAD |
|
|
rs1484117443 CA371093202 |
87 | A>V | No |
ClinGen gnomAD |
|
|
CA4731614 rs773847619 |
88 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 89 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371093228 rs1585602510 |
90 | D>A | No |
ClinGen Ensembl |
|
|
CA371093290 rs1409965245 |
96 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA371093283 rs1371864279 |
96 | M>V | No |
ClinGen gnomAD |
|
|
CA175989913 rs1032270809 |
97 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 98 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446214032 CA371093398 |
105 | R>Q | No |
ClinGen gnomAD |
|
|
rs755185347 CA4731618 |
106 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371093534 rs1186906925 |
109 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA371093539 rs1172782654 |
110 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA371093570 rs1383844139 |
114 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA175992438 rs202223251 |
117 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201303042 CA4731639 |
118 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750418316 CA4731641 |
119 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1436468534 CA371093596 |
119 | E>K | No |
ClinGen gnomAD |
|
|
rs758302357 CA4731643 |
120 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs758302357 CA4731642 |
120 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA371093614 rs1239220388 |
122 | I>V | No |
ClinGen TOPMed |
|
|
CA371093621 rs1235572928 |
123 | L>F | No |
ClinGen gnomAD |
|
|
CA4731644 rs200759910 |
123 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs6991366 CA175992524 |
126 | L>M | No |
ClinGen Ensembl |
|
|
CA371093647 rs1460784228 |
127 | S>N | No |
ClinGen TOPMed |
|
|
rs75600701 CA176002282 |
131 | S>C | No |
ClinGen Ensembl |
|
|
CA4731675 rs772468734 |
132 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339422234 CA371094340 |
134 | R>G | No |
ClinGen gnomAD |
|
|
CA371094348 rs1209146573 |
135 | Y>H | No |
ClinGen TOPMed |
|
|
rs1486879382 CA371094365 |
137 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 138 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 139 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747327806 CA371094414 |
144 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 150 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202135537 CA176002302 |
151 | I>N | No |
ClinGen Ensembl |
|
|
CA371094464 rs1563334909 |
151 | I>V | No |
ClinGen Ensembl |
|
|
CA371094470 rs1254504969 |
152 | V>F | No |
ClinGen gnomAD |
|
|
CA4731708 rs17875704 |
160 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1437183868 CA371094640 |
166 | D>A | No |
ClinGen gnomAD |
|
|
CA4731709 rs764751191 |
167 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA176003078 rs1056368664 |
170 | A>T | No |
ClinGen TOPMed |
|
|
CA371094694 rs1217007648 |
171 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA16618642 RCV000483123 rs1064795873 COSM1739421 |
171 | K>R | NS Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA371094751 rs1320582785 COSM3413029 |
176 | G>D | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA371094749 rs1563336675 |
176 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 178 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA176003104 rs202009575 |
180 | T>K | No |
ClinGen Ensembl |
|
|
rs894870572 CA176003114 |
189 | L>V | No |
ClinGen TOPMed |
|
|
CA371080338 rs1342935482 |
195 | E>V | No |
ClinGen TOPMed |
|
|
rs1249937878 CA371080371 |
197 | Q>K | No |
ClinGen gnomAD |
|
|
CA371080552 rs1166915207 |
205 | Y>C | No |
ClinGen gnomAD |
|
|
rs147591709 CA4731735 |
205 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA175962363 rs879530394 COSM1099990 |
209 | G>S | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1408743902 CA371080625 |
215 | C>G | No |
ClinGen gnomAD |
|
|
rs200416995 CA4731737 |
216 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA175962367 rs200416995 |
216 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 218 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199833280 CA175962428 |
219 | F>V | No |
ClinGen Ensembl |
|
|
CA371080655 rs1408603793 |
220 | R>Q | No |
ClinGen gnomAD |
|
|
CA4731739 rs779165425 COSM1552649 |
220 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 223 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761723102 CA4731743 |
229 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455916204 CA371083004 |
231 | W>C | No |
ClinGen TOPMed |
|
| TCGA novel | 232 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200571498 CA371083037 |
236 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA4731781 rs200571498 |
236 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA371083035 COSM1099992 rs1366003386 |
236 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 239 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388654905 CA371083067 |
240 | E>D | No |
ClinGen gnomAD |
|
|
CA4731784 rs745480677 |
244 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1289987110 CA371083125 |
247 | E>K | No |
ClinGen gnomAD |
|
|
COSM1330975 rs374916045 CA175967069 |
252 | T>M | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA |
|
CA371083211 rs140074007 |
253 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4731789 rs777275618 |
256 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4731790 rs528587499 |
257 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs372527642 CA4731791 |
257 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371083340 rs755044020 |
262 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs755044020 CA4731796 |
262 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA371083336 rs1253096312 |
262 | P>S | No |
ClinGen gnomAD |
|
|
rs753751753 CA4731798 |
263 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs201211235 CA4731797 |
263 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371083404 rs1164309996 |
267 | S>G | No |
ClinGen gnomAD |
|
|
rs768380323 CA4731823 |
269 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs879208575 CA175968610 |
270 | A>V | No |
ClinGen Ensembl |
|
|
CA175968617 rs953039928 |
271 | E>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 274 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371084113 rs1463565727 |
275 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 283 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1482507336 CA371084195 |
284 | H>D | No |
ClinGen TOPMed |
|
|
rs201788890 CA371084200 |
284 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA371084196 rs1482507336 |
284 | H>Y | No |
ClinGen TOPMed |
|
|
rs770202908 CA4731826 |
285 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1174309171 CA371084211 |
286 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 287 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA175968662 rs201602866 |
290 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA175968670 rs911625391 |
293 | T>A | No |
ClinGen gnomAD |
|
|
rs1563352166 CA371084360 |
298 | G>C | No |
ClinGen Ensembl |
|
|
rs1453303207 CA371084441 |
302 | A>V | No |
ClinGen TOPMed |
|
|
CA175968719 rs200722206 |
306 | I>M | No |
ClinGen Ensembl |
|
|
CA4731834 rs201429847 |
308 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750363305 CA4731836 |
309 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA371084691 rs1227523800 |
312 | V>F | No |
ClinGen gnomAD |
|
|
CA4731850 rs141351312 |
313 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371084777 rs1353098736 |
317 | M>I | No |
ClinGen gnomAD |
|
|
rs773066867 CA4731853 |
318 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4731854 rs762966170 |
319 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1585762006 CA371084790 |
319 | T>P | No |
ClinGen Ensembl |
|
|
CA371084816 rs1482001728 |
320 | G>V | No |
ClinGen gnomAD |
|
|
CA371084822 rs766356689 |
321 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4731855 rs766356689 |
321 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs754812986 CA4731857 |
324 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752371287 CA4731859 |
326 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4731861 rs777373586 |
327 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383217642 CA371084934 |
329 | E>V | No |
ClinGen TOPMed |
|
|
CA371084999 rs1236768484 |
333 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 334 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 337 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA175969041 rs368494951 |
338 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs201017580 CA175969046 |
339 | R>G | No |
ClinGen Ensembl |
|
|
rs1448407880 CA371085086 |
339 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs371588496 CA371085128 |
341 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4731865 rs746300165 |
343 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1563353425 CA371085142 |
343 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4731866 rs201849681 |
344 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371085167 rs201849681 |
344 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1359013873 CA371085179 |
345 | G>D | No |
ClinGen gnomAD |
|
|
rs747228090 CA4731868 |
349 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4731869 rs768724805 |
350 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA371085277 rs1227800267 |
351 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1383576017 CA371085274 |
351 | Q>L | No |
ClinGen gnomAD |
|
|
rs1383576017 TCGA novel CA371085272 |
351 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1341748286 CA371085369 |
355 | Q>R | No |
ClinGen gnomAD |
|
| VAR_035626 | 360 | A>S | breast cancer samples; infiltrating ductal carcinoma; somatic mutation [UniProt] | No | UniProt |
|
CA4731871 rs202120081 |
360 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA175969151 rs56230731 |
361 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371085527 rs759450524 |
362 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1585762932 CA371085521 |
362 | I>T | No |
ClinGen Ensembl |
|
|
rs767388805 CA4731875 COSM240212 |
363 | P>R | Variant assessed as Somatic; 0.0 impact. urinary_tract prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA371085556 rs1585763084 |
364 | D>E | No |
ClinGen Ensembl |
|
|
CA4731877 rs760398648 |
364 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371085574 rs1481505140 |
365 | K>N | No |
ClinGen gnomAD |
|
|
rs56411242 CA4731880 |
369 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371085634 rs1468606269 |
370 | C>R | No |
ClinGen gnomAD |
|
|
rs1434387039 CA371085688 |
374 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs758806135 CA4731884 |
374 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758806135 CA371085687 |
374 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434387039 CA371085689 |
374 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs904652965 CA175969200 |
375 | K>E | No |
ClinGen Ensembl |
|
|
rs1585763391 CA371085694 |
375 | K>R | No |
ClinGen Ensembl |
|
|
CA4731914 rs776308797 |
376 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA175969708 rs910670966 |
377 | N>S | No |
ClinGen Ensembl |
|
|
rs761487832 CA4731915 |
379 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA371086709 rs1379105237 |
383 | D>H | No |
ClinGen TOPMed |
|
|
CA4731916 rs764825814 |
387 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs762361603 CA4731918 |
391 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA4731917 rs372924645 |
391 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766964161 CA4731919 |
393 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA4731920 rs751984767 |
394 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1383432762 CA371087079 |
396 | T>I | No |
ClinGen gnomAD |
|
|
rs199756216 CA4731922 |
398 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA175969758 rs199792305 |
399 | T>S | No |
ClinGen Ensembl |
|
| TCGA novel | 403 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA175969764 rs919097916 |
403 | P>S | No |
ClinGen Ensembl |
|
|
CA4731923 rs200978518 |
404 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371087235 rs1270778996 |
404 | R>W | No |
ClinGen TOPMed |
|
|
CA175969786 rs201817517 |
405 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1367163182 CA371087322 |
407 | P>R | No |
ClinGen gnomAD |
|
|
rs543940041 CA4731925 |
408 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA175969804 rs190070597 |
409 | S>I | No |
ClinGen 1000Genomes gnomAD |
|
|
CA371087486 rs368737022 |
412 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4731927 rs757272789 |
413 | I>V | No |
ClinGen ExAC |
|
|
rs375520322 CA4731928 |
414 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778894182 CA4731948 |
418 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs896756037 CA175970464 |
419 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA371087941 rs1484961043 |
420 | N>S | No |
ClinGen gnomAD |
|
|
COSM3382256 rs781098452 CA4731951 |
422 | A>T | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4731954 rs769550956 |
423 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs747990773 CA4731952 |
423 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA4731953 rs769550956 |
423 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4731955 rs748923048 |
424 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1158374113 CA371088113 |
428 | K>R | No |
ClinGen gnomAD |
|
|
CA371088153 rs1380695738 |
430 | W>R | No |
ClinGen TOPMed |
|
|
CA4731956 rs770567145 |
431 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA371088252 rs1585774211 |
432 | Q>H | No |
ClinGen Ensembl |
|
|
CA4731958 rs574886589 |
436 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA175970605 rs945525217 |
436 | S>R | No |
ClinGen TOPMed |
|
|
CA4731959 rs772773518 |
436 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1585774327 CA371088417 |
439 | T>P | No |
ClinGen Ensembl |
|
|
CA175970607 rs200839761 |
439 | T>S | No |
ClinGen Ensembl |
|
|
CA4731960 rs776129087 |
440 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1585774437 CA371088565 |
445 | N>T | No |
ClinGen Ensembl |
|
|
rs1306962481 CA371088612 |
448 | Q>P | No |
ClinGen gnomAD |
|
|
CA4731965 rs765446636 |
449 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4731966 rs750477759 |
449 | Q>R | No |
ClinGen ExAC |
|
|
CA371088647 rs1332380881 |
451 | Q>E | No |
ClinGen Ensembl |
|
|
rs1585774606 CA371088651 |
451 | Q>R | No |
ClinGen Ensembl |
|
|
rs1168745816 CA371088661 |
452 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs201494261 CA175970682 |
452 | R>Q | No |
ClinGen TOPMed |
|
|
CA371088685 rs1286940689 |
454 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA371088691 rs1490249266 |
454 | A>V | No |
ClinGen gnomAD |
|
|
CA175971266 rs1006258727 |
457 | N>S | No |
ClinGen Ensembl |
|
|
rs777708531 CA4731992 |
459 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA371088943 rs1328608491 |
460 | R>* | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA371088979 rs1563358200 |
461 | N>K | No |
ClinGen Ensembl |
|
|
CA4731995 rs752090287 |
464 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371090221 rs1449893014 |
465 | L>F | No |
ClinGen TOPMed |
|
|
CA371090253 rs1317351095 |
467 | K>R | No |
ClinGen gnomAD |
|
|
CA175971328 rs201813218 |
469 | K>Q | No |
ClinGen Ensembl |
|
|
rs1248668668 CA371090355 |
472 | M>I | No |
ClinGen gnomAD |
|
|
CA4731997 rs758073170 |
472 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371090388 rs1270605606 |
475 | M>I | No |
ClinGen gnomAD |
|
|
rs200031466 CA175971347 |
475 | M>T | No |
ClinGen Ensembl |
|
|
CA4731998 rs150799158 |
475 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746450292 CA4731999 |
476 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 476 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1585779190 CA371090418 |
480 | K>Q | No |
ClinGen Ensembl |
|
|
CA4732001 rs777177935 |
480 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448970849 CA371090442 |
483 | L>W | No |
ClinGen gnomAD |
|
|
CA4732004 rs200661427 |
491 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774429138 CA4732007 |
499 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4732008 rs759599047 |
500 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1233879430 CA371090578 |
501 | T>I | No |
ClinGen Ensembl |
|
|
rs957699724 CA175971442 |
506 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 511 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371090665 rs1206885967 |
513 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4732037 rs774551534 |
514 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1201594733 CA371090718 |
517 | M>T | No |
ClinGen gnomAD |
|
|
CA371090756 rs201028048 |
520 | A>P | No |
ClinGen gnomAD |
|
|
CA175971665 rs201028048 |
520 | A>T | No |
ClinGen gnomAD |
|
|
CA4732039 CA4732040 rs767611860 |
522 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA175971702 rs1050740109 |
523 | L>P | No |
ClinGen TOPMed |
|
|
CA4732041 rs768143363 |
526 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs544274602 CA175972549 |
531 | K>I | No |
ClinGen gnomAD |
|
|
rs555347224 CA175972556 |
532 | L>F | No |
ClinGen Ensembl |
|
|
CA371090994 rs1387426723 |
533 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA371091018 rs1458233644 |
534 | V>A | No |
ClinGen gnomAD |
|
|
CA4732059 rs201840157 |
534 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA371091031 rs1438637705 |
535 | E>Q | No |
ClinGen TOPMed |
|
|
CA371091044 rs140485496 |
536 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111715123 CA4732062 |
536 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA175972581 rs200924684 |
537 | M>T | No |
ClinGen Ensembl |
|
|
CA175972586 rs921110664 |
539 | A>V | No |
ClinGen Ensembl |
|
|
CA4732065 rs759234043 |
543 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs767021770 CA4732066 |
546 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs752311881 CA4732067 |
548 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs752311881 CA371091216 |
548 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA371091287 rs1396231445 |
552 | M>I | No |
ClinGen gnomAD |
|
|
rs778292930 CA4732069 |
552 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778292930 CA175972622 |
552 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200018957 CA4732068 |
552 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA371091296 rs1326176524 |
553 | G>D | No |
ClinGen gnomAD |
|
|
rs1294457420 CA371091294 |
553 | G>S | No |
ClinGen gnomAD |
|
|
CA371091313 rs751295594 |
554 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA175972637 rs751295594 |
554 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4732071 VAR_021124 rs17875749 |
554 | R>W | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs923865995 CA175972639 |
555 | K>E | No |
ClinGen TOPMed |
|
|
CA371091339 rs779278875 |
556 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA4732072 rs779278875 |
556 | Q>P | No |
ClinGen ExAC gnomAD |
|
| rs1563361838 | 558 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371091368 rs1441651063 |
558 | G>V | No |
ClinGen TOPMed |
|
|
CA371091378 rs1182623073 |
559 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs776808731 CA4732078 |
561 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs201286348 CA4732080 |
562 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4732081 rs774211746 |
563 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4732095 rs755214823 |
564 | E>K | No |
ClinGen ExAC |
|
|
CA371091913 rs1404740155 |
569 | E>G | No |
ClinGen gnomAD |
|
|
CA371092000 rs1585795534 |
574 | L>R | No |
ClinGen Ensembl |
|
|
CA371092016 rs1339161742 |
575 | R>K | No |
ClinGen TOPMed |
|
|
CA371092036 rs1370365336 |
576 | E>G | No |
ClinGen gnomAD |
|
|
CA175973412 rs199779435 |
578 | P>T | No |
ClinGen Ensembl |
|
|
rs1220379326 CA371092075 |
579 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4732114 rs755267543 |
582 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA4732113 rs755267543 |
582 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4732116 rs756233855 |
586 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA371092228 rs1322143039 |
586 | D>N | No |
ClinGen gnomAD |
|
|
rs1458669220 CA371092305 |
590 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA175973579 rs201848482 |
590 | M>V | No |
ClinGen gnomAD |
|
|
CA4732118 rs745814735 |
594 | L>V | No |
ClinGen ExAC |
|
|
CA175973588 rs1053315031 |
597 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 598 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs551098063 CA175973619 |
601 | F>S | No |
ClinGen gnomAD |
|
|
CA4732121 rs746747749 |
603 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA4732122 rs768351634 |
606 | R>* | Variant assessed as Somatic; 9.241e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776259486 CA4732123 |
606 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4732124 rs776259486 |
606 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 607 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772743195 CA4732126 |
608 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs767393200 CA175973638 |
608 | I>T | No |
ClinGen Ensembl |
|
|
rs772743195 CA371092536 |
608 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA371092558 rs1446069169 |
609 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA371092556 rs1446069169 |
609 | Y>S | No |
ClinGen TOPMed gnomAD |
|
| rs946523062 | 612 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1430358424 CA371092703 |
616 | V>M | No |
ClinGen gnomAD |
|
|
CA371092709 rs1156870690 |
617 | V>I | No |
ClinGen TOPMed |
|
|
rs200235762 CA175973764 |
622 | A>T | No |
ClinGen Ensembl |
|
|
rs201563256 CA175973767 |
622 | A>V | No |
ClinGen Ensembl |
|
|
rs747818234 CA4732142 |
624 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs372663781 CA4732143 |
628 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1342198581 CA371092950 |
630 | E>K | No |
ClinGen gnomAD |
|
|
CA4732144 rs772615613 |
631 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA371092998 rs1585798700 |
631 | E>G | No |
ClinGen Ensembl |
|
|
rs762513853 CA4732145 |
632 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 633 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371093067 rs1214076849 |
634 | S>N | No |
ClinGen gnomAD |
|
|
CA4732148 rs760029302 |
637 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371093168 rs1261457287 |
637 | N>S | No |
ClinGen gnomAD |
|
|
rs1259447721 CA371093203 |
638 | E>V | No |
ClinGen TOPMed |
|
|
CA371093225 rs1377567643 |
639 | D>E | No |
ClinGen gnomAD |
|
|
CA4732149 COSM71145 rs768016671 COSM1457158 |
639 | D>N | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA175973838 rs756896366 |
643 | V>F | No |
ClinGen Ensembl |
|
|
CA175973830 rs756896366 |
643 | V>I | No |
ClinGen Ensembl |
|
|
rs764317881 CA4732152 |
644 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs146638252 CA4732154 |
645 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 647 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 650 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371093482 rs1221930017 |
660 | I>M | No |
ClinGen Ensembl |
|
|
CA371093477 rs1400408842 |
660 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 662 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765319542 CA4732175 |
663 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs200511641 CA175976144 |
666 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1377171441 CA371093708 |
666 | R>H | No |
ClinGen gnomAD |
|
|
CA371093710 rs1377171441 |
666 | R>L | No |
ClinGen gnomAD |
|
| TCGA novel | 666 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4732176 rs141390356 |
668 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201571411 CA175976146 |
669 | V>D | No |
ClinGen Ensembl |
|
|
CA371093723 rs1408354653 |
669 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs957787374 CA175976150 |
671 | G>A | No |
ClinGen Ensembl |
|
|
CA175976168 rs912467971 |
672 | S>G | No |
ClinGen TOPMed |
|
|
CA175976176 rs200039826 |
672 | S>N | No |
ClinGen TOPMed |
|
|
CA175976180 rs1011072675 |
673 | P>R | No |
ClinGen Ensembl |
|
|
rs1386860765 CA371093760 |
675 | S>G | No |
ClinGen TOPMed |
|
|
rs762749127 CA175976195 |
678 | A>T | No |
ClinGen Ensembl |
|
|
rs140546524 CA4732179 |
680 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA175976209 rs201635057 |
681 | L>P | No |
ClinGen Ensembl |
|
|
CA4732181 rs777340645 |
687 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4732182 rs748995487 |
689 | S>P | No |
ClinGen ExAC |
|
|
CA175976223 rs200870278 |
691 | P>S | No |
ClinGen gnomAD |
|
|
rs1197588215 CA371093870 |
692 | S>T | No |
ClinGen TOPMed |
|
|
rs1585820457 CA371093876 |
693 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 694 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464055312 CA371093912 |
698 | L>* | No |
ClinGen gnomAD |
|
|
rs1332791332 CA371093914 |
698 | L>F | No |
ClinGen gnomAD |
|
|
rs200260868 CA175976246 |
702 | A>P | No |
ClinGen TOPMed |
|
|
rs200260868 CA175976243 |
702 | A>T | No |
ClinGen TOPMed |
|
|
CA371093937 rs1400443884 |
702 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 703 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 704 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1310167432 CA371093954 |
704 | K>N | No |
ClinGen gnomAD |
|
|
rs201615746 CA4732201 |
709 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA175978676 rs201615746 |
709 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1201288179 CA371094662 |
715 | L>F | No |
ClinGen gnomAD |
|
|
rs1048337571 CA175978715 |
720 | E>G | No |
ClinGen TOPMed |
|
|
rs780471667 CA4732205 |
722 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 722 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432033885 CA371094816 |
723 | I>V | No |
ClinGen gnomAD |
|
|
CA4732208 rs777055240 |
724 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4732209 rs748451026 |
727 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4732210 rs200867144 |
729 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300512200 CA371094914 |
731 | D>A | No |
ClinGen gnomAD |
|
|
VAR_040570 rs56301637 CA4732212 |
734 | F>L | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA371095156 rs1292315684 |
736 | A>D | No |
ClinGen gnomAD |
|
|
rs17611716 VAR_051628 CA4732231 |
736 | A>T | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1585848050 CA371095167 |
738 | D>G | No |
ClinGen Ensembl |
|
|
CA371095186 rs1441740528 |
740 | S>R | No |
ClinGen gnomAD |
|
|
rs1418903415 CA371095196 |
741 | W>C | No |
ClinGen TOPMed |
|
|
rs201869683 CA371095208 |
743 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4732233 rs138183879 |
744 | T>M | Variant assessed as Somatic; 0.000231 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs774504811 CA4732236 |
745 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1284657311 CA371095237 |
747 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 748 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 748 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4732237 rs759520634 |
751 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1484925478 CA371095273 |
752 | L>P | No |
ClinGen TOPMed |
|
|
rs768703992 CA4732239 |
752 | L>V | No |
ClinGen ExAC |
|
|
CA4732241 rs776402046 |
753 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1212314329 CA371095276 |
753 | E>G | No |
ClinGen TOPMed |
|
|
rs200977622 CA175980397 |
753 | E>K | No |
ClinGen TOPMed |
|
|
CA175980407 rs200977622 |
753 | E>Q | No |
ClinGen TOPMed |
|
|
rs202054179 CA371095287 |
755 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1235903025 CA371095298 |
757 | S>R | No |
ClinGen gnomAD |
|
|
rs765143291 CA4732243 |
757 | S>S | No |
ClinGen ExAC TOPMed gnomAD |
2 associated diseases with O14920
[MIM: 615592]: Immunodeficiency 15B (IMD15B)
An autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T-cells, and impaired differentiation and activation of immune cells. {ECO:0000269|PubMed:24369075}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 618204]: Immunodeficiency 15A (IMD15A)
An autosomal dominant primary immunodeficiency disorder characterized by lymphopenia, inflammation and immune activation of both CD4+ and CD8+ T cells. Patients suffer from recurrent respiratory tract infections, oral candidiasis, and otitis media. {ECO:0000269|PubMed:30337470}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T-cells, and impaired differentiation and activation of immune cells. {ECO:0000269|PubMed:24369075}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant primary immunodeficiency disorder characterized by lymphopenia, inflammation and immune activation of both CD4+ and CD8+ T cells. Patients suffer from recurrent respiratory tract infections, oral candidiasis, and otitis media. {ECO:0000269|PubMed:30337470}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for O14920
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Short-chain dehydrogenase/reductase, conserved site | 197 - 225 | IPR020904 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| CD40 receptor complex | A protein complex that contains at least CD40 (a cell surface receptor of the tumour necrosis factor receptor (TNFR) superfamily), and other signaling molecules. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic side of plasma membrane | The leaflet the plasma membrane that faces the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| IkappaB kinase complex | A trimeric protein complex that phosphorylates inhibitory-kappaB (I-kappaB) proteins. The complex is composed of two kinase subunits (alpha and beta) and a regulatory gamma subunit (also called NEMO). In a resting state, NF-kappaB dimers are bound to inhibitory IKB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| 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. |
11 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| identical protein binding | Binding to an identical protein or proteins. |
| IkappaB kinase activity | Catalysis of the reaction: ATP + IkappaB protein = ADP + IkappaB phosphoprotein. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| scaffold protein binding | Binding to a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes. |
| transferrin receptor binding | Binding to a transferrin receptor. |
25 GO annotations of biological process
| Name | Definition |
|---|---|
| antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent | The process in which an antigen-presenting cell expresses a peptide antigen of exogenous origin on its cell surface in association with an MHC class I protein complex following intracellular transport via a TAP (transporter associated with antigen processing) pathway. The peptide is typically a fragment of a larger exogenous protein which has been degraded within the cell and is dependent on TAP transport from the cytosol to ER for association with the MHC class I molecule. Class I here refers to classical class I molecules. |
| cellular response to tumor necrosis factor | 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 tumor necrosis factor stimulus. |
| cortical actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of actin-based cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane. |
| Fc-epsilon receptor signaling pathway | The series of molecular signals initiated by the binding of the Fc portion of immunoglobulin E (IgE) to an Fc-epsilon receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. The Fc portion of an immunoglobulin is its C-terminal constant region. |
| I-kappaB kinase/NF-kappaB signaling | The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. |
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| interleukin-1-mediated signaling pathway | The series of molecular signals initiated by interleukin-1 binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| negative regulation of bicellular tight junction assembly | Any process that stops, prevents or reduces the frequency, rate or extent of tight junction assembly. |
| negative regulation of myosin-light-chain-phosphatase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of myosin-light-chain-phosphatase activity. |
| peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of I-kappaB kinase/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
| positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
| 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. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of establishment of endothelial barrier | Any process that modulates the frequency, rate or extent of establishment of endothelial barrier. |
| regulation of phosphorylation | Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule. |
| regulation of tumor necrosis factor-mediated signaling pathway | Any process that modulates the rate or extent of the tumor necrosis factor-mediated signaling pathway. The tumor necrosis factor-mediated signaling pathway is the series of molecular signals generated as a consequence of tumor necrosis factor binding to a cell surface receptor. |
| response to virus | 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 stimulus from a virus. |
| stimulatory C-type lectin receptor signaling pathway | The series of molecular signals initiated by the binding of C-type lectin to its receptor on the surface of a target cell, and resulting in cellular activation. |
| stress-activated MAPK cascade | The series of molecular signals in which a stress-activated MAP kinase cascade relays a signal; MAP kinase cascades involve at least three protein kinase activities and culminate in the phosphorylation and activation of a MAP kinase. |
| T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
| tumor necrosis factor-mediated signaling pathway | The series of molecular signals initiated by tumor necrosis factor binding to its receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9VEZ5 | IKKbeta | Inhibitor of nuclear factor kappa-B kinase subunit beta | Drosophila melanogaster (Fruit fly) | PR |
| Q14164 | IKBKE | Inhibitor of nuclear factor kappa-B kinase subunit epsilon | Homo sapiens (Human) | PR |
| Q9R0T8 | Ikbke | Inhibitor of nuclear factor kappa-B kinase subunit epsilon | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSWSPSLTTQ | TCGAWEMKER | LGTGGFGNVI | RWHNQETGEQ | IAIKQCRQEL | SPRNRERWCL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EIQIMRRLTH | PNVVAARDVP | EGMQNLAPND | LPLLAMEYCQ | GGDLRKYLNQ | FENCCGLREG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AILTLLSDIA | SALRYLHENR | IIHRDLKPEN | IVLQQGEQRL | IHKIIDLGYA | KELDQGSLCT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SFVGTLQYLA | PELLEQQKYT | VTVDYWSFGT | LAFECITGFR | PFLPNWQPVQ | WHSKVRQKSE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VDIVVSEDLN | GTVKFSSSLP | YPNNLNSVLA | ERLEKWLQLM | LMWHPRQRGT | DPTYGPNGCF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KALDDILNLK | LVHILNMVTG | TIHTYPVTED | ESLQSLKARI | QQDTGIPEED | QELLQEAGLA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LIPDKPATQC | ISDGKLNEGH | TLDMDLVFLF | DNSKITYETQ | ISPRPQPESV | SCILQEPKRN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LAFFQLRKVW | GQVWHSIQTL | KEDCNRLQQG | QRAAMMNLLR | NNSCLSKMKN | SMASMSQQLK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AKLDFFKTSI | QIDLEKYSEQ | TEFGITSDKL | LLAWREMEQA | VELCGRENEV | KLLVERMMAL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QTDIVDLQRS | PMGRKQGGTL | DDLEEQAREL | YRRLREKPRD | QRTEGDSQEM | VRLLLQAIQS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FEKKVRVIYT | QLSKTVVCKQ | KALELLPKVE | EVVSLMNEDE | KTVVRLQEKR | QKELWNLLKI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ACSKVRGPVS | GSPDSMNASR | LSQPGQLMSQ | PSTASNSLPE | PAKKSEELVA | EAHNLCTLLE |
| 730 | 740 | 750 | |||
| NAIQDTVREQ | DQSFTALDWS | WLQTEEEEHS | CLEQAS |