Q96DF8
Gene name |
ESS2 |
Protein name |
Splicing factor ESS-2 homolog |
Names |
DiGeorge syndrome critical region 13, DiGeorge syndrome critical region 14, DiGeorge syndrome protein H, DGS-H, Protein ES2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8220 |
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
2 structures for Q96DF8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8C6J | EM | 280 A | 4 | 1-476 | PDB |
| AF-Q96DF8-F1 | Predicted | AlphaFoldDB |
461 variants for Q96DF8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1302025516 CA410656625 |
2 | E>D | No |
ClinGen gnomAD |
|
|
CA321377871 rs375321180 |
3 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10097089 rs375321180 |
3 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410656581 rs537105916 |
4 | P>A | No |
ClinGen gnomAD |
|
|
CA10097087 rs755430853 |
4 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA410656572 rs755430853 |
4 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321377866 rs537105916 |
4 | P>S | No |
ClinGen gnomAD |
|
|
CA410656585 rs537105916 |
4 | P>T | No |
ClinGen gnomAD |
|
|
CA10097085 rs780536698 |
5 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA10097086 rs749850729 |
5 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs756509847 CA410656536 |
6 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410656550 rs1200030269 |
6 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10097084 rs756509847 |
6 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114771984 RCV000880692 CA10097083 |
7 | S>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10097082 rs145030716 |
7 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114771984 CA410656530 |
7 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs532703283 CA10097079 |
8 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs532703283 CA321377839 |
8 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1322065209 CA410656502 |
8 | A>V | Variant assessed as Somatic; 5.586e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201845619 CA410656492 |
9 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10097076 rs145246090 |
9 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10097077 rs145246090 |
9 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201845619 CA10097075 |
9 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10097074 rs370561261 |
10 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410656478 rs370561261 |
10 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1316988424 CA410656486 |
10 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs768822340 CA10097070 |
13 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768822340 CA10097071 |
13 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749359650 CA10097069 |
13 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA10097068 rs367802920 |
14 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367802920 CA410656414 |
14 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA321377811 rs983454485 |
16 | A>P | No |
ClinGen Ensembl |
|
|
CA321377808 rs960245551 |
16 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10097065 rs781727502 |
18 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781727502 CA410656324 |
18 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10097063 rs530916835 |
19 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs551093700 CA10097064 |
19 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777318051 CA10097062 |
20 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1288488136 CA410656261 |
21 | R>K | No |
ClinGen TOPMed |
|
|
rs1460293541 CA410656224 |
23 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs752214453 CA410656185 |
25 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752214453 CA10097060 |
25 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410656173 rs1326204746 |
26 | G>E | No |
ClinGen gnomAD |
|
|
CA10097059 rs765094825 |
27 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA410656141 rs1433805214 |
28 | A>V | No |
ClinGen gnomAD |
|
|
CA10097058 rs544823271 |
29 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 29 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410656132 rs1422837448 |
30 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs766214563 CA10097056 |
30 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_015117 rs113904207 CA10097055 |
31 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10097053 rs768784402 |
35 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA10097052 rs763021146 |
36 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA410656028 rs1156924914 |
36 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs780419082 CA321377766 |
37 | V>G | No |
ClinGen Ensembl |
|
|
rs1569115426 CA410655994 |
39 | D>E | No |
ClinGen Ensembl |
|
|
rs746425961 CA10097049 |
41 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1442997855 CA410655966 |
41 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1242934528 CA410655964 |
42 | E>Q | No |
ClinGen gnomAD |
|
|
rs201081961 CA321376861 |
47 | L>F | No |
ClinGen 1000Genomes TOPMed |
|
|
COSM1641489 CA10097027 rs375829121 |
49 | T>M | stomach [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1305839151 CA410655478 |
50 | V>A | No |
ClinGen TOPMed |
|
|
CA410655483 rs1431413489 |
50 | V>L | No |
ClinGen gnomAD |
|
|
CA410655469 rs1328060994 |
51 | I>F | No |
ClinGen gnomAD |
|
|
rs1300151959 CA410655452 |
52 | Q>* | No |
ClinGen gnomAD |
|
|
rs1300151959 CA410655454 |
52 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 54 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10097024 rs372370162 |
54 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 55 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA321376850 rs977468788 |
57 | P>A | No |
ClinGen Ensembl |
|
|
rs368156510 CA10097023 |
57 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10097021 rs756071081 |
60 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA321376839 rs11542546 |
61 | K>E | No |
ClinGen Ensembl |
|
|
CA410655343 rs1264845622 |
61 | K>R | No |
ClinGen TOPMed |
|
|
CA410655336 rs1197872057 |
62 | L>V | No |
ClinGen gnomAD |
|
|
rs374006759 CA321376834 |
63 | Q>R | No |
ClinGen ESP |
|
|
rs1029580611 CA321376830 |
65 | Q>* | No |
ClinGen Ensembl |
|
|
rs967639937 CA321376820 |
65 | Q>R | No |
ClinGen TOPMed |
|
|
CA321376816 rs998604062 |
66 | K>R | No |
ClinGen Ensembl |
|
|
rs1555916281 CA410655287 |
67 | E>K | No |
ClinGen Ensembl |
|
|
rs1555916281 CA410655286 |
67 | E>Q | No |
ClinGen Ensembl |
|
|
rs535319919 CA10097017 |
69 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 70 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752924065 CA10097016 |
71 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410655232 rs559394479 |
72 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10097013 rs559394479 |
72 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10097012 rs766906980 |
73 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA321376770 rs144603309 |
79 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10097008 rs144603309 |
79 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10097009 rs772367223 |
79 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410655134 rs773947416 |
81 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10097007 rs773947416 |
81 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1408770768 CA410655129 |
81 | R>H | No |
ClinGen TOPMed |
|
|
CA10097005 rs569930086 CA410655115 |
82 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC gnomAD NCI-TCGA |
| TCGA novel | 83 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 85 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10097004 rs779486009 |
86 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs756053981 CA10097003 |
89 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA321376748 rs745829152 |
90 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10097002 rs745829152 |
90 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139706843 CA10097000 |
93 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201700740 CA321376722 |
95 | S>T | No |
ClinGen 1000Genomes |
|
|
CA10096996 rs200418708 |
96 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs549848339 CA10096997 COSM444694 |
96 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA410654959 rs766419391 |
97 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321376715 rs949777513 |
97 | E>Q | No |
ClinGen TOPMed |
|
|
rs915598787 CA321376708 |
98 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs761214188 CA410654952 |
98 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs761214188 CA10096994 |
98 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA10096993 rs111488352 RCV000951355 |
99 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA321376706 rs1056088337 |
99 | P>S | No |
ClinGen Ensembl |
|
|
rs774706476 CA410654929 |
101 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774706476 CA10096990 |
101 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10096954 rs142891341 |
102 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10096989 rs768281956 |
102 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361818462 CA410654863 |
104 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA10096953 rs781310248 |
104 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1569113298 CA410654843 |
106 | A>T | No |
ClinGen Ensembl |
|
|
rs752018276 CA10096951 |
106 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10096949 rs764603196 |
110 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA10096948 rs758631784 |
111 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1369995654 CA410654784 |
112 | E>A | No |
ClinGen gnomAD |
|
|
rs1314325579 CA410654770 |
113 | V>E | No |
ClinGen TOPMed |
|
|
rs753109294 CA10096947 |
114 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1025308104 CA321376598 |
115 | A>V | No |
ClinGen TOPMed |
|
|
CA410654740 rs1195728748 |
116 | G>D | No |
ClinGen gnomAD |
|
|
rs759289271 CA10096945 |
116 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA410654735 rs1195728748 |
116 | G>V | No |
ClinGen gnomAD |
|
|
CA10096943 rs766028339 |
117 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA10096941 rs773235843 COSM1616228 |
121 | G>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA10096940 rs563995948 |
122 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10096939 rs375055751 |
124 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746126476 CA10096936 |
126 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746126476 CA10096937 |
126 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410654599 rs1220996257 |
126 | P>S | No |
ClinGen gnomAD |
|
|
rs757275424 COSM332379 CA10096934 |
127 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs889267913 CA321376566 |
127 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs759010652 CA10096931 |
128 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA10096932 rs778186461 |
128 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10096929 rs765680928 |
129 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA10096928 rs754557180 |
129 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA410654548 rs1452426012 |
130 | G>D | No |
ClinGen gnomAD |
|
|
CA321376555 rs71328292 |
130 | G>S | No |
ClinGen TOPMed |
|
|
CA410654518 rs767355139 |
132 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10096922 rs767355139 |
132 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773997518 COSM1193507 CA10096921 |
133 | D>G | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs773997518 CA10096920 |
133 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410653571 rs1306774936 |
135 | E>D | No |
ClinGen gnomAD |
|
|
CA410653566 rs1355795208 |
136 | A>G | No |
ClinGen TOPMed |
|
|
rs775330452 CA10096898 |
136 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448767739 CA410653564 |
137 | G>R | No |
ClinGen gnomAD |
|
|
rs1601358728 CA410653546 |
139 | E>G | No |
ClinGen Ensembl |
|
|
CA410653550 rs1188925213 |
139 | E>K | No |
ClinGen gnomAD |
|
|
CA410653539 rs1462095227 |
140 | E>A | No |
ClinGen TOPMed |
|
|
CA321372992 rs142163076 |
140 | E>D | No |
ClinGen ESP |
|
|
CA410653538 rs1462095227 |
140 | E>G | No |
ClinGen TOPMed |
|
|
rs1434321467 CA410653520 |
142 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1601358674 CA410653524 |
142 | K>R | No |
ClinGen Ensembl |
|
|
CA10096895 rs773132543 COSM135908 |
144 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1284509039 CA410653486 |
148 | L>V | No |
ClinGen gnomAD |
|
|
CA410653478 rs1450136035 |
149 | D>G | No |
ClinGen gnomAD |
|
|
rs935395053 CA321372980 |
150 | V>I | No |
ClinGen TOPMed |
|
|
rs953742022 CA321372970 |
153 | S>N | No |
ClinGen TOPMed |
|
|
CA10096891 rs769291624 |
154 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749669668 CA10096890 |
154 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749669668 CA410653447 |
154 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410653435 rs1361211971 |
156 | T>A | No |
ClinGen gnomAD |
|
|
rs780626777 CA10096889 |
156 | T>M | Variant assessed as Somatic; 0.0003235 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10096887 rs552696210 |
158 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410653423 rs1413544743 |
158 | E>K | No |
ClinGen gnomAD |
|
|
CA410653399 rs1422234608 |
160 | N>S | No |
ClinGen Ensembl |
|
|
CA410653379 rs1474071742 |
161 | A>V | No |
ClinGen gnomAD |
|
|
CA410653346 rs1410462491 |
164 | Q>R | No |
ClinGen TOPMed |
|
|
CA10096886 rs780727355 |
165 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM579525 rs756730455 CA10096885 |
167 | M>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1601358355 CA410653315 |
167 | M>V | No |
ClinGen Ensembl |
|
|
CA410653288 rs1264686682 |
169 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA410653278 rs1219811264 |
170 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1219811264 CA410653277 |
170 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs534119591 CA10096884 COSM3842173 |
173 | R>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA321372923 rs992474455 |
174 | S>N | No |
ClinGen TOPMed |
|
|
CA10096880 rs200671779 |
175 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367983628 COSM1241072 CA10096881 |
175 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1302773116 CA410653205 |
176 | A>V | No |
ClinGen TOPMed |
|
|
CA10096879 rs200014767 COSM1032019 |
177 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10096878 rs146164647 |
177 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10096876 rs149239809 |
178 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10096877 rs772197640 |
178 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA10096874 rs62223875 |
179 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10096873 rs374567546 |
180 | W>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1221719354 CA410653159 |
181 | L>V | No |
ClinGen gnomAD |
|
|
rs770232270 CA10096871 |
182 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410653135 rs1243621185 |
183 | Q>* | No |
ClinGen TOPMed |
|
|
rs370949168 CA10096870 |
185 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410653014 rs1221159241 |
191 | R>K | No |
ClinGen gnomAD |
|
|
rs200196233 CA10096849 |
192 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200196233 CA10096850 |
192 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410652988 rs1159895423 |
194 | D>E | No |
ClinGen TOPMed |
|
|
CA410652978 rs1410648525 |
196 | L>F | No |
ClinGen TOPMed |
|
|
CA10096845 rs182094450 CA410652968 |
197 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs370053001 CA10096846 |
197 | E>K | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs746678849 CA10096844 |
199 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777432584 CA10096843 |
203 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA10096842 rs757856073 |
203 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410652909 rs747673537 |
204 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs747673537 CA10096841 |
204 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs778756650 CA10096840 |
206 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA321372591 rs761756482 |
207 | E>D | No |
ClinGen gnomAD |
|
|
CA10096838 rs753657160 |
207 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10096837 rs766141099 |
208 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766141099 CA321372581 |
208 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10096836 rs757472646 |
211 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410652816 rs1238153125 |
212 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 214 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410652772 rs1214175175 |
215 | T>A | No |
ClinGen TOPMed |
|
|
rs201686898 CA321372560 |
215 | T>I | No |
ClinGen Ensembl |
|
|
rs530140096 CA10096833 |
216 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1183321082 CA410652683 |
219 | K>T | No |
ClinGen TOPMed |
|
|
CA410652660 rs775775567 |
220 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA410652678 rs1233141080 |
220 | A>T | No |
ClinGen TOPMed |
|
|
CA10096832 rs775775567 |
220 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 221 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 222 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187751346 CA410652562 |
224 | L>V | No |
ClinGen TOPMed |
|
|
CA410652524 rs1569110213 |
225 | M>I | No |
ClinGen Ensembl |
|
|
rs947942799 CA321372555 |
226 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1395967101 CA410652475 |
227 | Y>C | No |
ClinGen gnomAD |
|
|
rs983667719 CA321372553 |
227 | Y>H | No |
ClinGen Ensembl |
|
|
rs1569110187 CA410652465 |
228 | P>S | No |
ClinGen Ensembl |
|
|
rs777022646 CA10096829 |
229 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA410652293 rs1375125536 |
231 | V>F | No |
ClinGen gnomAD |
|
|
CA10096799 RCV000961728 rs62619780 |
234 | E>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10096798 rs752926171 |
237 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA410652127 rs1207237361 |
239 | K>E | No |
ClinGen TOPMed |
|
|
rs1249231695 CA410652057 |
241 | P>A | No |
ClinGen TOPMed |
|
|
CA10096797 rs779218622 |
241 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA321372150 COSM1203429 rs890258477 |
242 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
COSM1414857 CA10096796 rs754954476 |
242 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1254904381 CA410652006 |
243 | Q>H | No |
ClinGen TOPMed |
|
|
rs1375981910 CA410651986 |
244 | V>A | No |
ClinGen gnomAD |
|
|
rs1467305981 CA410651994 |
244 | V>L | No |
ClinGen gnomAD |
|
|
rs1433988204 CA410651975 |
245 | V>I | No |
ClinGen TOPMed |
|
|
CA10096794 rs766791880 |
246 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766791880 CA410651944 |
246 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410651949 rs1433916302 |
246 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs996255657 CA321372126 |
248 | N>K | No |
ClinGen TOPMed |
|
|
CA10096793 rs761230219 |
249 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA410651870 rs1259317061 |
250 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs140756028 CA10096791 |
250 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs566826089 CA321372070 |
252 | L>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1254846532 CA410651787 |
254 | D>E | No |
ClinGen gnomAD |
|
|
rs1233531282 CA410651750 |
257 | S>G | No |
ClinGen gnomAD |
|
|
rs968116729 CA410651745 |
257 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs968116729 CA321372063 |
257 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10096790 rs762199335 |
258 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA10096789 rs773829984 |
259 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA321372043 rs780719893 |
260 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1394154916 CA410651678 |
261 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs768372613 CA10096788 |
262 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA10096787 rs762361491 |
263 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466764172 CA410651624 |
264 | Q>K | No |
ClinGen gnomAD |
|
|
rs1569109602 CA410651561 |
267 | Q>E | No |
ClinGen Ensembl |
|
|
rs1439543152 CA410651520 |
268 | A>V | No |
ClinGen gnomAD |
|
|
rs776739459 CA410651504 |
270 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10096783 rs776739459 |
270 | A>T | Variant assessed as Somatic; 0.0001621 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770800622 CA10096782 |
271 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770800622 CA410651497 |
271 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321371965 rs1037688310 |
272 | N>S | No |
ClinGen gnomAD |
|
|
CA321371958 rs1022711974 |
273 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA410650514 rs1248663967 |
276 | K>N | No |
ClinGen TOPMed |
|
|
CA410650521 rs1190601531 |
276 | K>Q | No |
ClinGen TOPMed |
|
|
CA10096740 rs770011574 |
277 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA321371121 rs1055826827 |
277 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10096738 rs781293974 |
283 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410650284 rs1234692962 |
285 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 286 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441883104 CA410650193 |
291 | E>* | No |
ClinGen gnomAD |
|
|
rs1441883104 CA410650197 |
291 | E>Q | No |
ClinGen gnomAD |
|
|
CA321371086 rs146974447 |
292 | S>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10096734 rs148317214 |
294 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA410650104 rs1376107867 |
296 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA410650109 rs1247296989 |
296 | G>C | No |
ClinGen gnomAD |
|
|
CA410650044 rs1446707118 |
301 | V>I | No |
ClinGen gnomAD |
|
|
rs1359234759 CA410650032 |
302 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1234515125 CA410650011 |
303 | T>A | No |
ClinGen TOPMed |
|
|
CA410650000 rs1260442989 |
303 | T>I | No |
ClinGen TOPMed |
|
|
CA410649977 rs1417422785 |
305 | S>C | No |
ClinGen gnomAD |
|
|
rs893421219 CA321371007 |
306 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 306 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs982092347 CA321371014 |
306 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10096729 rs753377366 |
307 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA410649922 rs1181202280 |
308 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs528925233 CA321370959 |
309 | G>R | No |
ClinGen 1000Genomes |
|
|
rs1336035873 CA410649688 |
310 | V>L | No |
ClinGen gnomAD |
|
|
rs117976088 CA321370141 |
311 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA321370147 rs993590982 |
311 | N>S | No |
ClinGen TOPMed |
|
|
rs1319331770 CA410649653 |
312 | E>A | No |
ClinGen TOPMed |
|
|
COSM182020 rs202175079 CA10096704 |
312 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA410649607 rs1383497874 |
314 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs766513749 CA10096702 |
315 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1458368861 CA410649561 |
317 | T>I | No |
ClinGen gnomAD |
|
|
CA321370099 rs1027716692 |
318 | W>C | No |
ClinGen TOPMed |
|
|
CA10096701 rs760804299 |
318 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1464199559 CA410649526 |
320 | E>* | No |
ClinGen gnomAD |
|
|
rs1179182223 CA410649522 |
320 | E>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 320 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410649511 rs1171417356 |
321 | V>F | No |
ClinGen gnomAD |
|
|
rs1347763873 CA410649496 |
322 | E>G | No |
ClinGen TOPMed |
|
|
rs142149550 CA410649481 |
323 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10096698 rs748705227 |
324 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs775031102 CA10096697 |
324 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs775031102 CA410649472 |
324 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA10096694 rs755792682 |
325 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10096693 rs755792682 |
325 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs749686222 CA10096695 |
325 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10096692 rs549781957 |
327 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 328 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1310026727 CA410649427 |
328 | V>I | No |
ClinGen gnomAD |
|
|
rs1300140911 CA410649393 |
330 | G>E | No |
ClinGen gnomAD |
|
|
CA10096691 rs780602798 |
331 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs533003983 CA10096689 |
333 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA410649333 rs1463567466 |
335 | Y>F | No |
ClinGen gnomAD |
|
|
rs758121446 CA10096687 |
335 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410649323 rs17743887 CA10096685 |
336 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10096684 rs17743887 VAR_015118 |
336 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1386332094 CA410649302 |
338 | R>G | No |
ClinGen TOPMed |
|
|
CA410649300 rs1455019924 |
338 | R>K | No |
ClinGen gnomAD |
|
|
rs1177317678 CA410649277 |
340 | P>R | No |
ClinGen gnomAD |
|
|
CA321369973 rs949975061 |
340 | P>S | No |
ClinGen gnomAD |
|
|
rs767457150 CA410649269 |
341 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs767457150 CA10096682 |
341 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA410649263 rs1197088174 |
341 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 342 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410648893 rs1160816383 |
347 | L>P | No |
ClinGen gnomAD |
|
|
CA410648889 rs1456783061 |
348 | E>K | No |
ClinGen gnomAD |
|
|
CA10096660 rs764689359 |
349 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776091656 CA10096658 |
351 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA321368017 rs968360558 |
351 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA410648829 rs968360558 |
351 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs200861284 CA10096654 |
354 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10096655 rs776077837 |
354 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10096652 rs777313231 |
358 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771966191 CA10096651 |
359 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1320758640 CA410648701 |
361 | N>S | No |
ClinGen TOPMed |
|
|
CA10096649 rs747995432 |
362 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747995432 CA410648683 |
362 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10096647 rs754673515 |
364 | A>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1032017 rs754673515 CA410648651 |
364 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA410648613 rs1166965917 |
366 | K>R | No |
ClinGen gnomAD |
|
|
CA10096642 rs540493772 |
368 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10096643 rs540493772 |
368 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757615100 CA10096644 |
368 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 373 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753084383 CA10096640 |
373 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1253620886 CA410648475 |
374 | A>S | No |
ClinGen gnomAD |
|
|
CA321367866 rs368257897 COSM1641488 |
376 | R>Q | stomach [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs369834780 CA321367873 |
376 | R>W | No |
ClinGen ESP gnomAD |
|
|
CA10096639 rs574659489 |
378 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759812764 CA10096638 |
379 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 380 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 380 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777110426 CA10096637 |
381 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140145367 CA10096634 |
383 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410647527 rs1601342736 |
385 | L>F | No |
ClinGen Ensembl |
|
|
rs1378096431 CA410647511 |
386 | T>A | No |
ClinGen TOPMed |
|
|
CA410647502 rs1438233431 |
386 | T>I | No |
ClinGen TOPMed |
|
|
CA410647514 rs1378096431 |
386 | T>P | No |
ClinGen TOPMed |
|
|
rs1234617963 CA410647485 |
387 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA410647489 rs1470558412 |
387 | P>S | No |
ClinGen gnomAD |
|
|
CA10096614 rs773975522 |
388 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 389 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410647459 rs1457810365 |
389 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1601342603 CA410647434 |
390 | L>R | No |
ClinGen Ensembl |
|
|
rs146152930 CA10096613 |
390 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1601342558 CA410647351 |
394 | M>T | No |
ClinGen Ensembl |
|
|
CA10096612 rs142030383 |
394 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775604081 CA10096611 |
395 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs745674810 CA10096609 |
396 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281871091 CA410647275 |
397 | A>S | No |
ClinGen gnomAD |
|
|
rs1413819655 CA410647258 |
398 | L>P | No |
ClinGen gnomAD |
|
|
rs778130843 CA10096608 |
399 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs534156960 CA10096607 |
399 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748146654 CA10096606 |
400 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA10096605 rs575074091 |
400 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410647227 rs575074091 |
400 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1159765342 CA410647188 |
403 | S>R | No |
ClinGen gnomAD |
|
|
COSM1414855 CA410647170 rs1410300640 |
405 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs766875280 CA10096602 |
406 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs750843358 CA10096600 |
408 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA10096598 rs761563805 |
411 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA410647068 rs186717850 |
412 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10096595 rs763606714 |
412 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10096596 rs186717850 |
412 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10096593 rs775514047 COSM1032016 |
415 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs377464869 CA10096594 |
415 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1361045054 CA410646962 |
418 | Y>F | No |
ClinGen gnomAD |
|
|
rs769912652 CA10096592 |
420 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs712965 CA321367056 |
423 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs712965 CA321367050 |
423 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs712965 CA10096591 VAR_015119 |
423 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs751194608 CA321367028 |
424 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs776531141 CA10096590 |
424 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776531141 CA410646892 |
424 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410646889 rs776531141 |
424 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200592269 CA10096589 |
426 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410646876 rs1601342185 |
426 | T>P | No |
ClinGen Ensembl |
|
|
rs779035330 CA10096587 |
427 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs768714246 CA10096586 |
427 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10096585 rs749383026 |
428 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410646853 rs749383026 |
428 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321366981 rs991861629 |
429 | K>E | No |
ClinGen TOPMed |
|
|
CA10096584 rs137995273 |
430 | T>S | No |
ClinGen ESP ExAC |
|
|
CA10096583 rs756678975 |
431 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781653916 CA10096581 |
432 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA321366953 rs1036269035 |
432 | A>V | No |
ClinGen TOPMed |
|
|
rs1468552242 CA410646796 |
433 | S>G | No |
ClinGen gnomAD |
|
|
rs751161380 CA10096579 |
434 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10096577 rs762542001 |
437 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs765237389 CA10096575 |
437 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10096576 rs765237389 |
437 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410646746 rs762542001 |
437 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA321366896 COSM1714140 rs533285660 |
438 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1325145831 CA410646716 |
439 | T>I | No |
ClinGen gnomAD |
|
|
rs146964365 CA10096571 |
440 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 440 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368459829 CA10096570 |
441 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1032015 CA10096569 rs768922267 |
442 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10096567 rs780144981 COSM3842170 |
443 | A>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs746322500 CA10096565 |
444 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10096564 rs377733215 |
445 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs962807666 CA410646672 |
446 | S>C | No |
ClinGen gnomAD |
|
|
CA321366812 rs962807666 |
446 | S>F | No |
ClinGen gnomAD |
|
|
rs975182762 CA321366820 |
446 | S>P | No |
ClinGen Ensembl |
|
|
CA410646662 rs1206100325 |
448 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA321366800 rs367552506 |
448 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367552506 CA10096562 |
448 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551191358 CA10096560 |
449 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs551191358 CA10096561 |
449 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142803658 CA10096559 |
449 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142803658 CA410646659 |
449 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138868865 CA10096557 |
454 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766241326 CA10096555 |
456 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753742890 CA10096556 |
456 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772946229 CA10096553 |
457 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431813963 CA410646606 |
458 | S>F | No |
ClinGen gnomAD |
|
|
CA410646602 rs1402865145 |
459 | I>F | No |
ClinGen TOPMed |
|
|
rs113582836 CA321366717 |
462 | N>S | No |
ClinGen Ensembl |
|
|
CA10096549 rs769820225 |
465 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA410646541 rs375484595 |
469 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10096548 rs745952527 |
469 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA321366661 rs375484595 |
469 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs200628413 CA10096546 |
470 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777185987 CA10096547 |
470 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs747371131 CA10096545 COSM1032013 |
472 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1349762892 CA410646522 |
472 | A>V | No |
ClinGen gnomAD |
|
|
rs61737477 CA10096544 |
473 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA321366636 rs61737477 |
473 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1168613190 CA410646520 |
473 | S>P | No |
ClinGen gnomAD |
|
|
CA10096543 rs61737477 |
473 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778713377 CA10096541 |
474 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA410646517 rs778713377 |
474 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1411710864 CA410646490 |
477 | F>W | No |
ClinGen gnomAD |
No associated diseases with Q96DF8
No regional properties for Q96DF8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96DF8 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| catalytic step 2 spliceosome | A spliceosomal complex that contains three snRNPs, including U5, bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the associated snRNPs. |
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA splicing, via spliceosome | The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O70279 | Ess2 | Splicing factor ESS-2 homolog | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| METPGASASS | LLLPAASRPP | RKREAGEAGA | ATSKQRVLDE | EEYIEGLQTV | IQRDFFPDVE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KLQAQKEYLE | AEENGDLERM | RQIAIKFGSA | LGKMSREPPP | PYVTPATFET | PEVHAGTGVV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GNKPRPRGRG | LEDGEAGEEE | EKEPLPSLDV | FLSRYTSEDN | ASFQEIMEVA | KERSRARHAW |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LYQAEEEFEK | RQKDNLELPS | AEHQAIESSQ | ASVETWKYKA | KNSLMYYPEG | VPDEEQLFKK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PRQVVHKNTR | FLRDPFSQAL | SRCQLQQAAA | LNAQHKQGKV | GPDGKELIPQ | ESPRVGGFGF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VATPSPAPGV | NESPMMTWGE | VENTPLRVEG | SETPYVDRTP | GPAFKILEPG | RRERLGLKMA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NEAAAKNRAK | KQEALRRVTE | NLASLTPKGL | SPAMSPALQR | LVSRTASKYT | DRALRASYTP |
| 430 | 440 | 450 | 460 | 470 | |
| SPARSTHLKT | PASGLQTPTS | TPAPGSATRT | PLTQDPASIT | DNLLQLPARR | KASDFF |