Q16650
PR
Gene name |
TBR1 |
Protein name |
T-box brain protein 1 |
Names |
T-brain-1, TBR-1, TES-56 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10716 |
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
1 structures for Q16650
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q16650-F1 | Predicted | AlphaFoldDB |
494 variants for Q16650
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002318618 CA1930721 rs757176020 |
25 | P>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001260868 rs1684126194 |
58 | G>V | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1559059861 CA349210936 RCV002316765 |
76 | G>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002312471 RCV001836874 rs1559059936 RCV001766574 CA349211221 |
120 | P>S | Autism, susceptibility to, 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1684130791 RCV000735639 |
136 | A>missing | Autism, susceptibility to, 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771354583 VAR_081757 CA1930778 |
178 | Q>E | IDDAS; unknown pathological significance; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; does not affect interaction with FOXP2 [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA349211652 rs1553510182 RCV001200911 |
185 | Q>* | Attention deficit hyperactivity disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002316158 RCV002510581 rs764392292 CA1930788 |
198 | G>R | Autism, susceptibility to, 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553510215 RCV000622825 CA349211906 |
223 | E>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_081758 RCV000735641 rs1553510219 |
228 | K>E | Autism, susceptibility to, 5 IDDAS; de novo variant; localizes to the nucleus but forms abnormal aggregates; no effect on transcriptional repression of FEZF2; does not affect homodimerization; abolishes interaction with FOXP2; does not affect interaction with BCL11A [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
rs1553510280 RCV000627100 RCV001260801 |
238 | S>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_081759 RCV000735643 CA349212269 rs1559060428 |
271 | W>C | Autism, susceptibility to, 5 IDDAS; de novo variant; localizes to the nucleus but forms abnormal aggregates; no effect on transcriptional repression of FEZF2; does not affect homodimerization; severely decreased interaction with FOXP2; loss of interaction with FOXP1; does not affect interaction with BCL11A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1553510301 RCV000627101 CA349212262 VAR_078646 |
271 | W>R | IDDAS; de novo variant; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; does not affect interaction with FOXP2; does not affect interaction with BCL11A [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000850483 RCV000627104 rs1553510385 CA349212464 |
299 | W>* | Marfanoid habitus and intellectual disability [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001200912 rs1684167000 |
312 | T>missing | Attention deficit hyperactivity disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1684180699 RCV000735640 |
350 | T>* | Autism, susceptibility to, 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002318657 CA1930876 rs138102755 |
350 | T>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1930881 rs147026901 VAR_081760 |
356 | V>M | IDDAS; unknown pathological significance; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; does not affect interaction with FOXP2; does not affect interaction with BCL11A [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_081761 RCV000735642 rs1684182454 |
374 | N>H | Autism, susceptibility to, 5 IDDAS; de novo variant; localizes to the nucleus but forms abnormal aggregates; no effect on transcriptional repression of FEZF2; does not affect homodimerization; abolishes interaction with FOXP2; does not affect interaction with BCL11A [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs1684206632 RCV001252364 |
382 | I>T | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_081762 RCV000735644 rs1553510677 CA349213114 |
389 | K>E | Autism, susceptibility to, 5 IDDAS; de novo variant; localizes to the nucleus but forms abnormal aggregates; no effect on transcriptional repression of FEZF2; does not affect homodimerization; severely decreased interaction with FOXP2; loss of interaction with FOXP1; does not affect interaction with BCL11A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1173646549 CA349213323 VAR_081763 |
418 | Q>R | IDDAS; unknown pathological significance; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; decreased interaction with FOXP2; loss of interaction with BCL11A [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
RCV001260821 rs1553511175 RCV000627108 |
457 | T>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1574152522 RCV000986841 |
516 | Y>missing | Autism, susceptibility to, 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001266838 RCV000509230 RCV000627111 RCV001200907 RCV002515568 RCV000735645 RCV000824817 RCV001200914 RCV000209932 RCV000627109 RCV000627110 RCV001200915 RCV000505228 rs869312704 |
532 | T>missing | Focal cortical dysplasia Intellectual disability Intellectual developmental disorder with speech delay, autism, and dysmorphic facies Autism, susceptibility to, 5 Neurodevelopmental disorder Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_081764 | 542 | P>R | IDDAS; unknown pathological significance; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; does not affect interaction with FOXP2; does not affect interaction with BCL11A [UniProt] | Yes | UniProt |
|
RCV001260826 RCV000627114 rs1553511226 |
552 | Q>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001266792 rs1684276254 |
552 | Q>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1574152672 RCV000995661 |
578 | A>missing | Autism, susceptibility to, 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1684280120 RCV001197279 |
606 | P>T | Autism, susceptibility to, 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002316738 rs773830114 CA1931028 |
643 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1684282566 RCV001291837 |
650 | S>G | Autism, susceptibility to, 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1310795066 RCV000622752 CA349215321 |
681 | H>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA349210322 rs1553510079 |
2 | Q>* | No |
ClinGen Ensembl |
|
|
CA349210335 rs1553510080 |
4 | E>* | No |
ClinGen Ensembl |
|
|
CA349210355 rs1553510082 |
6 | C>* | No |
ClinGen Ensembl |
|
| TCGA novel | 15 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553510085 CA349210419 |
16 | K>* | No |
ClinGen Ensembl |
|
|
rs780468207 CA1930714 |
17 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs761374834 CA1930718 |
21 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs769394887 CA1930719 |
22 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1930720 rs772689272 |
22 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs766023018 CA1930722 |
25 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA349210481 rs757176020 |
25 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334509541 CA349210493 |
27 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA349210506 rs767441448 |
29 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs1460903562 CA349210508 |
29 | G>A | No |
ClinGen gnomAD |
|
|
rs767441448 CA1930725 |
29 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs200301285 CA1930726 |
30 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349210517 rs1553510092 |
31 | E>* | No |
ClinGen Ensembl |
|
|
CA1930727 rs757264763 |
32 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA349210532 rs1574148762 |
33 | V>A | No |
ClinGen Ensembl |
|
|
rs1553510093 CA349210536 |
34 | L>* | No |
ClinGen Ensembl |
|
| TCGA novel | 35 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349210553 rs1286230789 |
36 | D>G | No |
ClinGen TOPMed |
|
|
rs779076527 CA1930728 |
38 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs200648037 CA59552139 |
38 | P>S | No |
ClinGen 1000Genomes |
|
| TCGA novel | 40 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349210586 rs1553510094 |
41 | S>* | No |
ClinGen Ensembl |
|
|
rs1374111628 CA349210604 |
44 | D>V | No |
ClinGen gnomAD |
|
|
CA1930729 rs750541078 |
46 | L>P | No |
ClinGen ExAC |
|
|
CA349210621 rs1224166124 |
47 | E>* | No |
ClinGen TOPMed |
|
|
CA1930730 rs758657791 |
47 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs999981182 CA59552140 |
47 | E>D | No |
ClinGen Ensembl |
|
|
rs1224166124 CA349210622 |
47 | E>Q | No |
ClinGen TOPMed |
|
|
rs1553510099 CA349210628 |
48 | R>* | No |
ClinGen Ensembl |
|
|
rs376447579 CA1930731 |
49 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs747370278 CA349210639 |
49 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs368841409 CA1930734 |
50 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769183125 CA1930733 |
50 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1553510101 CA349210653 |
52 | L>* | No |
ClinGen Ensembl |
|
|
rs1553510103 CA349210660 |
53 | K>* | No |
ClinGen Ensembl |
|
|
rs1553510104 CA349210667 |
54 | K>* | No |
ClinGen Ensembl |
|
|
rs201185594 CA1930735 |
55 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451398901 CA349210682 |
56 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 59 | M>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA59552141 rs967524009 |
59 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1553510109 CA349210837 |
62 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs774057382 CA1930740 |
66 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1334318795 CA349210873 |
67 | N>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 67 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349210875 rs1238846280 |
67 | N>S | No |
ClinGen gnomAD |
|
|
rs1257085526 CA349210898 |
70 | D>V | No |
ClinGen gnomAD |
|
|
RCV001171707 rs1684126771 |
71 | S>C | No |
ClinVar dbSNP |
|
|
rs1553510113 CA349210909 |
72 | K>* | No |
ClinGen Ensembl |
|
|
CA59552143 rs773402041 |
72 | K>N | No |
ClinGen gnomAD |
|
|
rs1401711125 CA349210916 |
73 | D>Y | No |
ClinGen TOPMed |
|
|
CA1930742 rs572692771 |
74 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA349210945 rs1277497351 |
77 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA349210949 rs1485071634 |
78 | V>F | No |
ClinGen gnomAD |
|
|
rs1553510120 CA349210955 |
79 | Q>* | No |
ClinGen Ensembl |
|
|
CA59552144 rs977153850 |
79 | Q>R | No |
ClinGen TOPMed |
|
|
rs1553510122 CA349210961 |
80 | R>* | No |
ClinGen Ensembl |
|
|
rs958400091 CA59552145 |
81 | S>N | No |
ClinGen Ensembl |
|
|
rs1476286027 CA349210967 |
81 | S>R | No |
ClinGen TOPMed |
|
|
CA349210976 rs1553510124 |
82 | K>* | No |
ClinGen Ensembl |
|
|
rs752584466 CA1930743 |
83 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1930744 rs760701536 |
83 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349210997 rs1417056245 |
85 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs200216820 CA1930745 |
86 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349211005 rs1553510127 |
87 | L>* | No |
ClinGen Ensembl |
|
|
CA1930746 rs750500939 |
88 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369019854 CA59552146 |
90 | V>F | No |
ClinGen Ensembl |
|
|
rs1553510130 CA349211036 |
92 | E>* | No |
ClinGen Ensembl |
|
|
CA1930748 rs766674218 |
92 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1374889412 CA349211041 |
93 | L>F | No |
ClinGen gnomAD |
|
|
CA349211046 rs1430534386 |
93 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1310061399 CA349211047 |
94 | R>S | No |
ClinGen gnomAD |
|
|
rs866343704 CA59552147 |
96 | S>G | No |
ClinGen Ensembl |
|
|
rs991709899 CA59552149 |
98 | D>E | No |
ClinGen TOPMed |
|
|
rs971513058 CA59552148 |
98 | D>V | No |
ClinGen Ensembl |
|
|
CA349211085 rs1391175006 |
99 | G>D | No |
ClinGen gnomAD |
|
|
CA349211095 rs1302337998 |
101 | A>P | No |
ClinGen gnomAD |
|
|
rs1333203255 CA349211100 |
102 | A>T | No |
ClinGen gnomAD |
|
|
CA349211110 rs1559059914 |
103 | D>G | No |
ClinGen Ensembl |
|
|
rs1232677224 CA349211106 |
103 | D>N | No |
ClinGen gnomAD |
|
|
rs1346479772 CA349211118 |
104 | R>L | No |
ClinGen gnomAD |
|
|
rs755345399 CA1930750 |
104 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA349211122 rs1574148903 |
105 | Y>S | No |
ClinGen Ensembl |
|
|
rs1252683619 CA349211130 |
106 | L>H | No |
ClinGen gnomAD |
|
|
rs1479490957 CA349211144 |
108 | S>C | No |
ClinGen gnomAD |
|
|
CA349211146 rs1553510137 |
109 | Q>* | No |
ClinGen Ensembl |
|
|
rs1194876541 CA349211153 |
110 | S>T | No |
ClinGen gnomAD |
|
|
rs1267731715 CA349211159 |
111 | S>G | No |
ClinGen gnomAD |
|
|
CA349211163 rs1434723512 |
111 | S>T | No |
ClinGen gnomAD |
|
|
rs1553510138 CA349211169 |
112 | Q>* | No |
ClinGen Ensembl |
|
|
rs1553510140 CA349211183 |
114 | Q>* | No |
ClinGen Ensembl |
|
|
rs1271000766 CA349211193 |
115 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 117 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1930751 rs781712846 |
121 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 122 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1930753 rs756660035 |
123 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA349211239 rs748596864 |
123 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs748596864 CA1930752 |
123 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs778201579 CA1930754 |
126 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1574148937 CA349211262 |
126 | Y>S | No |
ClinGen Ensembl |
|
|
CA1930755 rs370046911 |
127 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM285608 CA59552152 rs867216711 |
128 | G>D | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs745544490 CA1930758 |
128 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325790732 CA349211296 |
131 | G>A | No |
ClinGen gnomAD |
|
|
CA349211293 rs1439213784 |
131 | G>R | No |
ClinGen gnomAD |
|
|
CA1930759 rs771817058 |
132 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs771817058 CA349211301 |
132 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1432024137 CA349211303 |
133 | A>T | No |
ClinGen TOPMed |
|
|
CA1930762 rs781656731 |
134 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1574148967 CA349211311 |
134 | H>P | No |
ClinGen Ensembl |
|
|
CA1930763 rs199700587 |
135 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA1930764 rs763065937 |
136 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs974187675 CA59552153 |
140 | G>R | No |
ClinGen gnomAD |
|
|
rs974187675 CA349211347 |
140 | G>S | No |
ClinGen gnomAD |
|
|
CA349211355 rs1252294552 |
141 | S>N | No |
ClinGen gnomAD |
|
|
rs1574148979 CA349211359 |
141 | S>R | No |
ClinGen Ensembl |
|
|
rs751790208 CA1930766 |
142 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1324242839 CA349211376 |
144 | R>H | No |
ClinGen TOPMed |
|
|
CA349211391 rs1259683416 |
146 | M>T | No |
ClinGen gnomAD |
|
|
rs753094786 CA349211417 |
149 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1574149003 CA349211438 |
153 | T>P | No |
ClinGen Ensembl |
|
|
rs778312516 CA349211450 |
154 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349211447 rs1395540593 |
154 | N>S | No |
ClinGen TOPMed |
|
|
CA349211452 rs1553510166 |
155 | G>* | No |
ClinGen Ensembl |
|
|
rs1553510171 RCV000627098 |
156 | A>* | No |
ClinVar dbSNP |
|
|
CA349211457 rs1193937095 |
156 | A>T | No |
ClinGen gnomAD |
|
|
CA349211467 rs1287664426 |
157 | Y>C | No |
ClinGen gnomAD |
|
|
CA349211482 rs1359219011 |
159 | S>N | No |
ClinGen gnomAD |
|
|
rs1312975445 CA349211488 |
160 | L>V | No |
ClinGen gnomAD |
|
|
rs745459686 CA1930775 |
164 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349211514 rs1574149036 |
164 | S>P | No |
ClinGen Ensembl |
|
|
CA349211520 rs1553510176 |
165 | S>* | No |
ClinGen Ensembl |
|
|
rs1553510178 CA349211531 |
167 | Q>* | No |
ClinGen Ensembl |
|
|
CA349211537 rs1553510179 |
168 | G>* | No |
ClinGen Ensembl |
|
| TCGA novel | 168 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140337543 CA1930776 |
173 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775187265 CA349211583 |
175 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1930777 rs775187265 |
175 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM717263 rs771354583 CA349211601 |
178 | Q>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA349211610 rs1553510181 |
179 | Q>* | No |
ClinGen Ensembl |
|
|
rs1559060071 CA349211625 |
181 | G>C | No |
ClinGen Ensembl |
|
|
CA349211662 rs1553510183 |
186 | G>* | No |
ClinGen Ensembl |
|
|
rs1187510537 CA349211666 |
187 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 187 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349211677 rs1459195361 |
188 | P>L | No |
ClinGen gnomAD |
|
|
rs1413114353 CA349211674 |
188 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV001200142 CA349211696 rs1553510186 |
191 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1050748231 CA59552154 |
191 | Q>H | No |
ClinGen Ensembl |
|
|
rs766985921 CA59552155 |
192 | F>Y | No |
ClinGen Ensembl |
|
|
CA349211708 rs1443652220 |
193 | S>A | No |
ClinGen TOPMed |
|
|
CA1930785 rs767849327 |
195 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA349211727 rs1553510193 |
196 | Q>* | No |
ClinGen Ensembl |
|
|
CA1930786 rs531185213 |
196 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1574149138 CA349211753 |
200 | V>G | No |
ClinGen Ensembl |
|
|
rs754333449 CA1930789 |
201 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349211765 rs1553510197 |
203 | K>* | No |
ClinGen Ensembl |
|
|
CA1930790 rs757768263 |
204 | A>T | No |
ClinGen ExAC |
|
|
rs1553510199 CA349211780 |
205 | Q>* | No |
ClinGen Ensembl |
|
|
rs1316331942 CA349211787 |
206 | V>L | No |
ClinGen gnomAD |
|
|
CA349211811 rs1553510202 |
209 | C>* | No |
ClinGen Ensembl |
|
|
rs1210403995 CA349211823 |
211 | R>K | No |
ClinGen gnomAD |
|
|
CA349211826 rs1252875232 |
211 | R>S | No |
ClinGen gnomAD |
|
|
CA349211828 rs1471354050 |
212 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 213 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553510208 CA349211846 |
214 | W>* | No |
ClinGen Ensembl |
|
|
CA349211843 rs1553510205 |
214 | W>* | No |
ClinGen Ensembl |
|
|
CA349211856 rs1553510209 |
216 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 216 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 218 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1930793 rs757939703 |
219 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1553510212 CA349211892 |
221 | Q>* | No |
ClinGen Ensembl |
|
|
RCV000627099 CA349211922 rs1553510217 |
225 | I>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA349211944 rs1553510219 |
228 | K>* | No |
ClinGen Ensembl |
|
|
CA349211952 rs1553510220 |
229 | Q>* | No |
ClinGen Ensembl |
|
|
CA349211960 rs1553510224 |
230 | G>* | No |
ClinGen Ensembl |
|
| TCGA novel | 245 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427719883 CA349212130 |
252 | I>T | No |
ClinGen TOPMed |
|
|
rs1553510287 CA349212171 |
258 | L>* | No |
ClinGen Ensembl |
|
|
rs76939068 CA59552219 |
258 | L>F | No |
ClinGen TOPMed |
|
|
COSM1008271 CA59552220 rs868472878 |
259 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA349212215 rs1553510294 |
264 | W>* | No |
ClinGen Ensembl |
|
|
CA349212212 rs1553510291 |
264 | W>* | No |
ClinGen Ensembl |
|
|
rs1574149540 CA349212227 |
266 | F>V | No |
ClinGen Ensembl |
|
|
CA349212234 rs1553510296 |
267 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 267 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349212243 COSM570545 rs1553510298 |
268 | G>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA349212255 rs1553510299 |
270 | K>* | No |
ClinGen Ensembl |
|
|
TCGA novel CA349212264 rs1553510303 |
271 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
CA349212266 RCV000627102 rs1553510303 |
271 | W>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1553510307 CA349212288 |
274 | C>* | No |
ClinGen Ensembl |
|
| TCGA novel | 274 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349212298 rs1553510310 |
276 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 277 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1272610433 CA349212310 |
278 | D>N | No |
ClinGen gnomAD |
|
|
CA349212336 rs1322670879 |
281 | V>A | No |
ClinGen gnomAD |
|
|
rs1553510313 RCV000627103 CA349212340 |
282 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1553510314 CA349212348 |
283 | G>* | No |
ClinGen Ensembl |
|
|
rs754584509 CA349212372 |
285 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754584509 CA1930834 |
285 | R>W | Variant assessed as Somatic; 4.633e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA349212378 rs1334636047 |
286 | V>F | No |
ClinGen gnomAD |
|
|
CA349212376 rs1334636047 |
286 | V>I | No |
ClinGen gnomAD |
|
|
CA1930836 rs755926306 |
288 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs12994035 VAR_052264 CA59552266 |
289 | H>Q | No |
ClinGen UniProt Ensembl dbSNP |
|
|
COSM717262 rs934590067 CA59552267 |
290 | P>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA1930838 rs749173480 |
291 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1930839 rs372328404 |
293 | P>S | No |
ClinGen ESP ExAC TOPMed |
|
|
rs778970545 CA1930840 |
295 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA349212467 rs1553510386 |
299 | W>* | No |
ClinGen Ensembl |
|
|
rs1553510387 CA349212487 |
302 | Q>* | No |
ClinGen Ensembl |
|
|
rs1553510388 CA349212495 |
303 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA349212524 rs1553510392 |
307 | G>* | No |
ClinGen Ensembl |
|
|
rs1343611259 CA349212527 |
307 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA349212530 rs1553510394 |
308 | K>* | No |
ClinGen Ensembl |
|
|
CA1930842 rs768824836 |
309 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1553510396 CA349212543 |
310 | K>* | No |
ClinGen Ensembl |
|
|
rs1553510400 CA349212580 |
315 | K>* | No |
ClinGen Ensembl |
|
|
CA349212587 rs1553510402 |
316 | G>* | No |
ClinGen Ensembl |
|
|
rs866109801 CA59552270 |
320 | N>K | No |
ClinGen Ensembl |
|
|
CA349212619 rs1317640843 |
321 | N>H | No |
ClinGen gnomAD |
|
|
rs1356191487 CA349212631 |
322 | G>A | No |
ClinGen gnomAD |
|
|
CA349212635 rs1553510405 |
323 | Q>* | No |
ClinGen Ensembl |
|
|
rs1553510464 CA349212700 |
330 | L>* | No |
ClinGen Ensembl |
|
|
rs1553510465 CA349212714 |
332 | K>* | No |
ClinGen Ensembl |
|
|
CA349212730 rs1553510466 |
334 | Q>* | No |
ClinGen Ensembl |
|
|
rs1553510468 COSM3713470 CA349212776 |
341 | E>* | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA349212797 rs775156012 |
344 | E>* | No |
ClinGen ExAC |
|
|
CA1930873 rs775156012 |
344 | E>K | No |
ClinGen ExAC |
|
|
rs763837415 CA1930875 |
347 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1553510470 CA349212824 |
348 | E>* | No |
ClinGen Ensembl |
|
|
rs1394571421 CA349212850 |
351 | S>R | No |
ClinGen gnomAD |
|
|
rs1553510472 CA349212853 RCV000762285 |
352 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1462644743 CA349212860 |
353 | P>A | No |
ClinGen gnomAD |
|
|
CA59552337 rs868017061 |
354 | G>D | No |
ClinGen Ensembl |
|
| TCGA novel | 354 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750257562 CA1930879 |
354 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA349212871 rs1559060915 |
355 | R>C | No |
ClinGen Ensembl |
|
|
CA1930880 rs376796011 |
355 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1553510481 CA349212881 |
357 | Q>* | No |
ClinGen Ensembl |
|
|
CA349212883 rs1559060924 |
357 | Q>R | No |
ClinGen Ensembl |
|
|
rs752770268 CA1930882 |
358 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1367247958 CA349212891 |
358 | T>K | No |
ClinGen TOPMed |
|
|
rs777950961 CA1930884 |
362 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 362 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311122670 CA349212920 |
363 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 363 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311122670 CA349212919 |
363 | E>K | No |
ClinGen gnomAD |
|
|
CA1930885 rs749547310 |
364 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA349212934 rs1553510486 |
365 | Q>* | No |
ClinGen Ensembl |
|
|
CA349212949 rs1252743788 |
367 | I>V | No |
ClinGen gnomAD |
|
|
rs1559060935 CA349212957 |
368 | A>S | No |
ClinGen Ensembl |
|
| TCGA novel | 369 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001200913 rs1684181938 |
369 | V>missing | No |
ClinVar dbSNP |
|
|
CA1930887 rs779341532 |
371 | A>T | No |
ClinGen ExAC |
|
|
CA349212987 rs1553510491 |
373 | Q>* | No |
ClinGen Ensembl |
|
|
RCV003128668 RCV000761565 RCV000627105 rs1553510492 CA349212991 |
373 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1553510659 CA349213043 |
379 | Q>* | No |
ClinGen Ensembl |
|
|
CA349213056 rs1553510666 |
381 | K>* | No |
ClinGen Ensembl |
|
|
rs772779182 CA1930917 |
384 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs762713626 RCV000627106 CA349213091 |
385 | N>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1553510677 CA349213113 |
389 | K>* | No |
ClinGen Ensembl |
|
|
rs1553510679 CA349213122 |
390 | G>* | No |
ClinGen Ensembl |
|
|
rs1553510680 RCV000627107 |
393 | D>missing | No |
ClinVar dbSNP |
|
|
CA349213176 rs1357112524 |
397 | T>M | No |
ClinGen gnomAD |
|
|
rs747662916 CA1930936 |
401 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs781615252 CA1930934 |
401 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747662916 CA1930935 |
401 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs772872315 CA1930937 |
402 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1190310817 CA349213236 |
404 | M>I | No |
ClinGen TOPMed |
|
|
CA59552780 rs937384477 |
404 | M>L | No |
ClinGen TOPMed |
|
|
CA349213231 rs937384477 |
404 | M>V | No |
ClinGen TOPMed |
|
|
CA1930938 rs748971743 |
406 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1553511142 CA349213272 |
410 | S>* | No |
ClinGen Ensembl |
|
| TCGA novel | 410 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1930940 rs774147328 |
412 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 412 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1574152258 CA349213291 |
413 | D>A | No |
ClinGen Ensembl |
|
|
CA349213299 rs1553511143 |
414 | S>* | No |
ClinGen Ensembl |
|
|
rs1257935819 CA349213309 |
416 | R>G | No |
ClinGen TOPMed |
|
|
CA1930945 rs765258977 |
416 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 418 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349213334 rs1559062352 |
420 | V>M | No |
ClinGen Ensembl |
|
|
CA349213344 rs1412348881 |
421 | P>L | No |
ClinGen gnomAD |
|
|
rs758704219 CA1930947 |
421 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231245992 CA349213359 |
424 | R>H | No |
ClinGen gnomAD |
|
|
CA1930948 rs766762421 |
424 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 425 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1574152292 CA349213370 |
426 | A>T | No |
ClinGen Ensembl |
|
|
CA1930949 rs751965855 |
427 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs370488062 CA1930951 |
428 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370488062 CA1930950 |
428 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1345858892 CA349213391 |
429 | G>D | No |
ClinGen gnomAD |
|
|
CA59552783 rs749855363 |
433 | Q>K | No |
ClinGen Ensembl |
|
|
rs753166129 CA1930952 |
433 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1930954 rs777154213 |
435 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA349213435 rs1168503541 |
436 | F>L | No |
ClinGen TOPMed |
|
|
rs886345883 CA59552784 |
438 | S>G | No |
ClinGen gnomAD |
|
|
CA349213464 rs1254285779 |
440 | Y>H | No |
ClinGen gnomAD |
|
|
rs778605780 CA1930957 |
441 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553511162 CA349213478 |
442 | K>* | No |
ClinGen Ensembl |
|
|
CA1930958 rs745634482 |
443 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA349213489 rs1411442162 |
444 | R>G | No |
ClinGen gnomAD |
|
|
rs760530539 CA1930961 |
445 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA349213504 rs1461859092 |
446 | H>Y | No |
ClinGen gnomAD |
|
|
rs769851599 CA1930963 |
447 | P>A | No |
ClinGen ExAC |
|
|
CA1930966 rs766676327 |
450 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs753182668 CA1930970 |
452 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs753182668 CA1930971 |
452 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1271880699 CA349213559 |
455 | P>L | No |
ClinGen gnomAD |
|
|
rs756803352 CA1930974 |
456 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1930973 rs753345147 |
456 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1930975 rs778517965 |
459 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs778517965 CA349213579 |
459 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs745532885 CA1930976 |
459 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA1930977 rs771828494 |
464 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1475442179 CA349213612 |
464 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA59552788 rs890226439 |
465 | N>D | No |
ClinGen TOPMed |
|
|
CA1930980 rs768471428 |
470 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1020402018 CA59552790 |
471 | Q>H | No |
ClinGen gnomAD |
|
|
rs1329390375 CA349213654 |
471 | Q>L | No |
ClinGen TOPMed |
|
|
CA349213669 rs1356476197 |
473 | A>V | No |
ClinGen gnomAD |
|
|
rs776747698 CA1930981 |
476 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349213693 rs1356178906 |
476 | P>L | No |
ClinGen gnomAD |
|
|
rs1356178906 CA349213691 |
476 | P>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 480 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349213722 rs1574152458 |
481 | P>L | No |
ClinGen Ensembl |
|
|
rs763101427 CA1930982 |
481 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs763101427 CA349213718 |
481 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1553511185 CA349213723 |
482 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1553511187 CA349213742 |
484 | W>* | No |
ClinGen Ensembl |
|
|
rs1553511188 CA349213744 |
484 | W>* | No |
ClinGen Ensembl |
|
|
rs1262097914 CA349213768 |
488 | P>Q | No |
ClinGen gnomAD |
|
|
rs774675373 CA1930984 |
488 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA59552792 rs866077609 |
489 | A>T | No |
ClinGen Ensembl |
|
|
rs967651073 CA59552793 |
490 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 492 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553511193 CA349213832 |
498 | S>* | No |
ClinGen Ensembl |
|
|
rs752992287 CA1930987 |
499 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1930988 rs761171156 |
500 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs754394615 CA1930990 |
503 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416860372 CA349213863 |
503 | A>V | No |
ClinGen gnomAD |
|
|
rs1340272250 CA349213887 |
506 | F>L | No |
ClinGen gnomAD |
|
|
CA1930992 rs764762301 |
507 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1930991 rs756711732 |
507 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA349213908 rs1237412177 |
510 | A>T | No |
ClinGen gnomAD |
|
|
CA349213912 rs1378022159 |
511 | A>T | No |
ClinGen TOPMed |
|
|
rs779821061 CA1930995 |
514 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1253775574 CA349213943 |
516 | Y>S | No |
ClinGen gnomAD |
|
|
rs1441669969 CA349213948 |
517 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 518 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 519 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 519 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 520 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349214002 rs1437898042 |
525 | P>Q | No |
ClinGen gnomAD |
|
|
rs1200258980 CA349214006 |
526 | L>P | No |
ClinGen TOPMed |
|
|
CA1930999 rs748101844 |
528 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA349214028 rs1436765374 |
530 | G>R | No |
ClinGen gnomAD |
|
|
rs771094892 CA1931000 |
533 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 540 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA59552795 rs1000405813 |
540 | A>G | No |
ClinGen Ensembl |
|
|
CA349214093 rs1307840196 |
540 | A>P | No |
ClinGen gnomAD |
|
|
CA349214138 rs1234927454 |
547 | A>T | No |
ClinGen gnomAD |
|
|
RCV001200916 rs1684275626 |
549 | S>missing | No |
ClinVar dbSNP |
|
|
RCV000627112 rs1553511216 |
550 | P>missing | No |
ClinVar dbSNP |
|
|
rs1033104710 CA349214159 |
550 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA59552796 rs1033104710 |
550 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV000761566 RCV000627113 rs1553511224 |
552 | Q>missing | No |
ClinVar dbSNP |
|
|
CA349214195 rs1167241207 |
555 | G>S | No |
ClinGen gnomAD |
|
|
CA349214218 rs1456339394 |
558 | S>* | No |
ClinGen gnomAD |
|
|
CA349214217 rs1456339394 |
558 | S>L | No |
ClinGen gnomAD |
|
|
rs1197011257 CA349214249 |
564 | C>R | No |
ClinGen gnomAD |
|
|
CA59552801 rs991511981 |
566 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764452041 CA59552802 |
569 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs764452041 CA1931006 |
569 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1931008 rs762334378 |
570 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398590813 CA349214301 |
572 | A>T | No |
ClinGen gnomAD |
|
|
CA349214309 rs1187507979 |
573 | A>S | No |
ClinGen TOPMed |
|
|
CA349214315 rs1574152658 |
574 | R>C | No |
ClinGen Ensembl |
|
|
CA349214319 rs1327216554 |
575 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA349214320 rs1327216554 |
575 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA349214328 rs1393167410 |
576 | A>T | No |
ClinGen gnomAD |
|
|
rs1559062622 CA349214331 |
576 | A>V | No |
ClinGen Ensembl |
|
|
rs1211971655 CA349214337 |
577 | G>D | No |
ClinGen TOPMed |
|
|
rs1371058774 CA349214334 |
577 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA349214345 rs1488088647 |
578 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 580 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330079176 CA349214362 |
581 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1330079176 CA349214361 |
581 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1206996227 CA349214376 |
583 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 587 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349214424 rs1273798108 |
590 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1489503769 CA349214428 |
591 | A>T | No |
ClinGen gnomAD |
|
|
rs765936377 CA1931012 |
598 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs111330719 CA59552805 |
599 | G>R | No |
ClinGen Ensembl |
|
|
CA349214486 rs1477729452 |
601 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1477729452 CA349214485 |
601 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA349214490 rs1166263087 |
601 | A>V | No |
ClinGen gnomAD |
|
|
rs1553511270 CA349214492 |
602 | E>* | No |
ClinGen Ensembl |
|
|
CA349214511 rs1456842176 |
604 | A>G | No |
ClinGen gnomAD |
|
|
CA349214514 rs1553511284 |
605 | K>* | No |
ClinGen Ensembl |
|
|
CA349214529 rs1553511290 |
607 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 611 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349214569 rs1382397027 |
613 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA349214582 rs1553511295 |
614 | W>* | No |
ClinGen Ensembl |
|
|
CA349214577 rs1279740945 |
614 | W>R | No |
ClinGen gnomAD |
|
|
CA349214594 rs1553511299 |
616 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 616 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349214621 rs1553511302 |
620 | S>* | No |
ClinGen Ensembl |
|
| TCGA novel | 620 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349214619 rs1293684024 |
620 | S>P | No |
ClinGen gnomAD |
|
|
CA59552807 rs781164693 |
621 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349214632 rs1553511312 |
622 | K>* | No |
ClinGen Ensembl |
|
|
rs1017957398 CA59552808 |
622 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA349214649 rs1219049836 |
624 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1486260276 CA349214644 |
624 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs964010584 CA59552809 |
625 | D>G | No |
ClinGen TOPMed |
|
|
CA349214672 rs1272612952 |
627 | S>N | No |
ClinGen gnomAD |
|
|
CA349214681 rs1488163166 |
627 | S>R | No |
ClinGen gnomAD |
|
|
CA349214705 rs1553511322 |
629 | S>* | No |
ClinGen Ensembl |
|
|
rs1217909034 CA349214724 |
631 | I>V | No |
ClinGen TOPMed |
|
|
rs1553511327 CA349214749 |
633 | E>* | No |
ClinGen Ensembl |
|
|
CA349214761 rs1553511334 |
634 | Q>* | No |
ClinGen Ensembl |
|
|
COSM233549 rs1422528845 CA349214774 |
635 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA349214786 rs1553511338 |
636 | K>* | No |
ClinGen Ensembl |
|
|
CA1931021 rs772249348 |
637 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs747232019 CA1931023 |
638 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA349214847 rs1553511344 |
641 | S>* | No |
ClinGen Ensembl |
|
|
rs776961878 CA1931025 |
642 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1931027 rs765731155 |
643 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1931030 rs201381014 |
644 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1931029 rs370327497 |
644 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1931032 rs759284660 |
646 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1931038 rs558548201 |
649 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 649 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1931037 rs753825497 |
649 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1931039 rs780210539 |
651 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349214973 rs1559062781 |
652 | S>C | No |
ClinGen Ensembl |
|
|
rs1553511376 CA349215002 |
655 | K>* | No |
ClinGen Ensembl |
|
|
CA349215003 rs1482503921 |
655 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 657 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349215047 rs1251940888 |
660 | A>G | No |
ClinGen gnomAD |
|
|
rs1553511382 CA349215056 |
661 | Q>* | No |
ClinGen Ensembl |
|
|
rs1553511385 CA349215097 |
664 | C>* | No |
ClinGen Ensembl |
|
|
rs1166351509 CA349215089 |
664 | C>S | No |
ClinGen TOPMed |
|
|
CA349215104 rs1553511386 |
665 | E>* | No |
ClinGen Ensembl |
|
|
CA349215117 rs1553511389 |
666 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 666 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349215151 rs1553511396 |
668 | C>* | No |
ClinGen Ensembl |
|
|
rs1159874663 CA349215170 |
670 | K>R | No |
ClinGen gnomAD |
|
|
CA349215209 rs1173926700 |
673 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1459312656 CA349215215 |
673 | S>R | No |
ClinGen Ensembl |
|
|
CA1931044 COSM3694927 rs575609707 |
675 | Y>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed |
|
CA1931043 rs748501635 |
675 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA349215245 rs1464411144 |
676 | Y>C | No |
ClinGen gnomAD |
|
|
CA349215265 rs1246282572 |
678 | F>L | No |
ClinGen TOPMed |
|
|
rs773527197 CA1931046 |
679 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA349215303 rs1553511408 |
680 | S>* | No |
ClinGen Ensembl |
|
|
CA1931048 rs202002010 |
680 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1459458213 CA349215313 |
681 | H>P | No |
ClinGen gnomAD |
1 associated diseases with Q16650
[MIM: 606053]: Intellectual developmental disorder with autism and speech delay (IDDAS)
An autosomal dominant neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits. {ECO:0000269|PubMed:14593429, ECO:0000269|PubMed:22495311, ECO:0000269|PubMed:23160955, ECO:0000269|PubMed:25232744, ECO:0000269|PubMed:25356899, ECO:0000269|PubMed:25363760, ECO:0000269|PubMed:25418537, ECO:0000269|PubMed:30250039}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits. {ECO:0000269|PubMed:14593429, ECO:0000269|PubMed:22495311, ECO:0000269|PubMed:23160955, ECO:0000269|PubMed:25232744, ECO:0000269|PubMed:25356899, ECO:0000269|PubMed:25363760, ECO:0000269|PubMed:25418537, ECO:0000269|PubMed:30250039}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for Q16650
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ABC transporter-like, ATP-binding domain | 2 - 241 | IPR003439 |
| domain | AAA+ ATPase domain | 30 - 218 | IPR003593 |
| conserved_site | ABC transporter-like, conserved site | 141 - 155 | IPR017871 |
| domain | NIL domain | 265 - 340 | IPR018449 |
| domain | Methionine import ATP-binding protein MetN, ATP-binding domain | 1 - 233 | IPR041701 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin DNA binding | Binding to DNA that is assembled into chromatin. |
| 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. |
| 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. |
| 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. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| amygdala development | The progression of the amygdala over time from its initial formation until its mature state. The amygdala is an almond-shaped set of neurons in the medial temporal lobe of the brain that play a key role in processing emotions such as fear and pleasure. |
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| cell fate specification | The process involved in the specification of cell identity. Once specification has taken place, a cell will be committed to differentiate down a specific pathway if left in its normal environment. |
| cerebral cortex development | The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon. |
| chromatin remodeling | A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication. |
| commitment of neuronal cell to specific neuron type in forebrain | The commitment of neuronal precursor cells to become specialized types of neurons in the forebrain. |
| conditioned taste aversion | A conditioned aversion to a specific chemical compound as a result of that compound being coupled with a noxious stimulus. |
| hindbrain development | The process whose specific outcome is the progression of the hindbrain over time, from its formation to the mature structure. The hindbrain is the posterior of the three primary divisions of the developing chordate brain, or the corresponding part of the adult brain (in vertebrates, includes the cerebellum, pons, and medulla oblongata and controls the autonomic functions and equilibrium). |
| histone deacetylation | The modification of histones by removal of acetyl groups. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| 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. |
| regulation of axon guidance | Any process that modulates the frequency, rate or extent of axon guidance. |
| regulation of neuron projection development | Any process that modulates the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| specification of animal organ identity | The regionalization process in which the identity of an animal organ primordium is specified. Identity is considered to be the aggregate of characteristics by which a structure is recognized. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P79779 | TBX6L | T-box-containing protein TBX6L | Gallus gallus (Chicken) | PR |
| Q13207 | TBX2 | T-box transcription factor TBX2 | Homo sapiens (Human) | PR |
| Q60707 | Tbx2 | T-box transcription factor TBX2 | Mus musculus (Mouse) | PR |
| Q64336 | Tbr1 | T-box brain protein 1 | Mus musculus (Mouse) | PR |
| Q20257 | tbx-11 | Putative T-box protein 11 | Caenorhabditis elegans | PR |
| Q22289 | tbx-9 | T-box transcription factor tbx-9 | Caenorhabditis elegans | PR |
| Q9N2K7 | tbx-30 | Putative T-box protein 30/42 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQLEHCLSPS | IMLSKKFLNV | SSSYPHSGGS | ELVLHDHPII | STTDNLERSS | PLKKITRGMT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NQSDTDNFPD | SKDSPGDVQR | SKLSPVLDGV | SELRHSFDGS | AADRYLLSQS | SQPQSAATAP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SAMFPYPGQH | GPAHPAFSIG | SPSRYMAHHP | VITNGAYNSL | LSNSSPQGYP | TAGYPYPQQY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GHSYQGAPFY | QFSSTQPGLV | PGKAQVYLCN | RPLWLKFHRH | QTEMIITKQG | RRMFPFLSFN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ISGLDPTAHY | NIFVDVILAD | PNHWRFQGGK | WVPCGKADTN | VQGNRVYMHP | DSPNTGAHWM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RQEISFGKLK | LTNNKGASNN | NGQMVVLQSL | HKYQPRLHVV | EVNEDGTEDT | SQPGRVQTFT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FPETQFIAVT | AYQNTDITQL | KIDHNPFAKG | FRDNYDTIYT | GCDMDRLTPS | PNDSPRSQIV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PGARYAMAGS | FLQDQFVSNY | AKARFHPGAG | AGPGPGTDRS | VPHTNGLLSP | QQAEDPGAPS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PQRWFVTPAN | NRLDFAASAY | DTATDFAGNA | ATLLSYAAAG | VKALPLQAAG | CTGRPLGYYA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DPSGWGARSP | PQYCGTKSGS | VLPCWPNSAA | AAARMAGANP | YLGEEAEGLA | AERSPLPPGA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AEDAKPKDLS | DSSWIETPSS | IKSIDSSDSG | IYEQAKRRRI | SPADTPVSES | SSPLKSEVLA |
| 670 | 680 | ||||
| QRDCEKNCAK | DISGYYGFYS | HS |