Q9UBC1
PR
Gene name |
NFKBIL1 (IKBL) |
Protein name |
NF-kappa-B inhibitor-like protein 1 |
Names |
Inhibitor of kappa B-like protein, I-kappa-B-like protein, IkappaBL, Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4795 |
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 Q9UBC1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UBC1-F1 | Predicted | AlphaFoldDB |
677 variants for Q9UBC1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs760700998 CA3713548 |
2 | S>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs766520362 CA3713549 |
3 | N>K | No |
ExAC gnomAD ClinGen |
|
|
CA3713551 rs763038060 |
4 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs752550941 CA3713550 |
4 | P>S | No |
ExAC gnomAD ClinGen |
|
| rs1469192475 | 6 | P>C | No | gnomAD | |
| rs753361570 | 6 | P>H | No |
ExAC gnomAD |
|
|
rs1186127359 CA363323905 |
6 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1186127359 CA363323904 |
6 | P>R | No |
TOPMed gnomAD ClinGen |
|
| rs1409749809 | 7 | Q>C | No | gnomAD | |
| rs1376248551 | 7 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs755428062 | 9 | P>H | No |
ExAC gnomAD |
|
| rs976504875 | 10 | E>* | No | gnomAD | |
|
CA3713552 rs763974277 |
10 | E>A | No |
ExAC gnomAD ClinGen |
|
| rs200916722 | 10 | E>Q | No | Ensembl | |
| rs201426110 | 12 | E>H | No | TOPMed | |
| rs923486230 | 13 | A>C | No |
TOPMed gnomAD |
|
|
CA363324031 rs1264069514 |
13 | A>D | No |
TOPMed ClinGen |
|
|
rs1171309189 CA363324026 |
13 | A>P | No |
gnomAD ClinGen |
|
|
CA363324028 rs1171309189 |
13 | A>T | No |
gnomAD ClinGen |
|
|
rs1405196204 CA363324045 |
14 | S>F | No |
ClinGen gnomAD |
|
|
rs1467797530 CA363324050 |
15 | T>A | No |
gnomAD ClinGen |
|
| rs1326129898 | 16 | S>C | No | gnomAD | |
| TCGA novel | 16 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780529645 | 16 | S>H | No | Ensembl | |
| rs1326129898 | 16 | S>S | No | gnomAD | |
|
rs928354850 CA363324129 |
19 | R>G | No |
TOPMed gnomAD ClinGen |
|
|
CA363324152 rs756924829 COSM1634720 |
19 | R>P | liver [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
|
rs756924829 CA3713554 |
19 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
rs928354850 CA136846153 |
19 | R>W | No |
TOPMed gnomAD ClinGen |
|
| rs187829198 | 19 | R>Y | No |
1000Genomes ExAC gnomAD |
|
|
rs764137612 CA3713571 |
20 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs764137612 CA3713570 |
20 | P>R | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs1234988799 | 20 | P>S | No |
TOPMed gnomAD |
|
|
rs200159216 CA3713572 |
21 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA363324339 rs1217589594 |
22 | S>N | No |
gnomAD ClinGen |
|
|
rs201715449 CA3713574 |
23 | S>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs767397529 CA3713573 |
23 | S>P | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs1226488057 | 24 | M>I | No | TOPMed | |
|
rs755862602 CA3713575 |
24 | M>V | No |
ExAC gnomAD ClinGen |
|
| rs199556213 | 25 | A>G | No | gnomAD | |
| rs1290534375 | 25 | A>Q | No | gnomAD | |
| rs199556213 | 25 | A>W | No | gnomAD | |
| rs747188794 | 26 | S>T | No |
ExAC gnomAD |
|
| rs200680805 | 28 | S>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs149648509 | 28 | S>S | No |
ESP ExAC |
|
|
rs1469192475 CA363324529 |
29 | R>C | No |
gnomAD ClinGen |
|
|
rs753361570 CA3713577 |
29 | R>H | Variant assessed as Somatic; 9.246e-05 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs1409749809 CA363324561 |
30 | R>C | No |
gnomAD ClinGen |
|
|
CA3713578 rs755428062 |
32 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA136846652 rs976504875 |
33 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs200916722 CA136846655 |
33 | R>Q | No |
Ensembl ClinGen |
|
| TCGA novel | 35 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201426110 CA136846656 |
35 | R>H | No |
TOPMed ClinGen |
|
| rs770037003 | 35 | R>S | No |
ExAC gnomAD |
|
|
CA136846658 rs923486230 |
36 | R>C | No |
TOPMed gnomAD ClinGen |
|
| rs201523402 | 36 | R>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs767213756 | 37 | F>E | No |
ExAC gnomAD |
|
| rs1165325574 | 37 | F>H | No | gnomAD | |
| rs1165325574 | 37 | F>N | No | gnomAD | |
|
rs1249149777 CA363324732 |
38 | R>C | No |
TOPMed ClinGen |
|
|
rs1326129898 CA363324757 |
39 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs780529645 CA136846671 |
39 | R>H | No |
ClinGen Ensembl |
|
|
rs1326129898 CA363324751 |
39 | R>S | No |
gnomAD ClinGen |
|
| rs1465774683 | 42 | S>E | No | gnomAD | |
|
CA3713583 rs187829198 |
42 | S>Y | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA363324903 rs1234988799 |
43 | A>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1226488057 CA363325042 |
47 | V>I | No |
TOPMed ClinGen |
|
|
rs199556213 CA136846686 |
48 | R>G | No |
gnomAD ClinGen |
|
|
rs1290534375 CA363325074 |
48 | R>Q | No |
gnomAD ClinGen |
|
| rs200412984 | 48 | R>Q | No |
TOPMed gnomAD |
|
|
rs199556213 CA363325071 |
48 | R>W | No |
gnomAD ClinGen |
|
| rs1327419040 | 48 | R>W | No | gnomAD | |
|
CA3713584 rs747188794 |
49 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs200680805 CA3713586 |
51 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3713585 rs149648509 |
51 | A>S | No |
ESP ExAC ClinGen |
|
| rs566329535 | 51 | A>S | No |
1000Genomes gnomAD |
|
| rs566329535 | 51 | A>T | No |
1000Genomes gnomAD |
|
| rs897588289 | 52 | L>C | No | gnomAD | |
| rs201908227 | 52 | L>H | No | gnomAD | |
| rs897588289 | 52 | L>S | No | gnomAD | |
| rs1338479606 | 54 | Q>N | No | gnomAD | |
| TCGA novel | 58 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3713589 rs770037003 |
58 | G>S | No |
ClinGen ExAC gnomAD |
|
| rs1194073654 | 59 | L>F | No |
TOPMed gnomAD |
|
|
rs201523402 CA3713591 |
59 | L>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs767213756 CA3713592 |
60 | D>E | No |
ExAC gnomAD ClinGen |
|
|
CA363325463 rs1165325574 |
60 | D>H | No |
gnomAD ClinGen |
|
|
CA363325462 rs1165325574 |
60 | D>N | No |
gnomAD ClinGen |
|
| rs1191097966 | 62 | D>F | No |
TOPMed gnomAD |
|
| rs760189358 | 63 | A>G | No |
ExAC gnomAD |
|
| rs201288049 | 63 | A>Q | No | Ensembl | |
| rs760189358 | 63 | A>W | No |
ExAC gnomAD |
|
|
CA363325662 rs1465774683 |
65 | Q>E | No |
gnomAD ClinGen |
|
| rs1187793022 | 67 | P>Y | No | gnomAD | |
| rs1435233936 | 68 | P>R | No |
TOPMed gnomAD |
|
| rs764776393 | 68 | P>S | No |
ExAC TOPMed gnomAD |
|
|
CA363325861 rs1160632073 |
70 | H>Y | No |
TOPMed ClinGen |
|
| rs1426335303 | 71 | R>* | No | gnomAD | |
|
rs200412984 CA136846752 |
71 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| rs759006946 | 71 | R>R | No |
ExAC gnomAD |
|
|
CA363325889 rs1327419040 |
71 | R>W | No |
gnomAD ClinGen |
|
| rs1403959711 | 72 | A>N | No | gnomAD | |
| rs1398055862 | 73 | C>C | No | gnomAD | |
| rs777929159 | 73 | C>H | No |
ExAC gnomAD |
|
| rs1268674825 | 74 | A>Q | No | TOPMed | |
| rs1224897537 | 74 | A>R | No | gnomAD | |
|
rs566329535 CA136846753 |
74 | A>S | No |
1000Genomes gnomAD ClinGen |
|
|
CA363325943 rs566329535 |
74 | A>T | No |
1000Genomes gnomAD ClinGen |
|
|
rs897588289 CA136846756 |
75 | R>C | No |
gnomAD ClinGen |
|
|
CA136846759 COSM1077577 rs201908227 |
75 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs897588289 CA363325969 |
75 | R>S | No |
gnomAD ClinGen |
|
| rs1318462603 | 77 | D>M | No |
TOPMed gnomAD |
|
|
rs1338479606 CA363326081 |
77 | D>N | No |
gnomAD ClinGen |
|
|
CA363326290 rs1194073654 |
82 | C>F | No |
TOPMed gnomAD ClinGen |
|
| rs199875424 | 84 | L>H | No | Ensembl | |
|
rs1191097966 CA363326412 |
85 | L>F | No |
TOPMed gnomAD ClinGen |
|
|
CA3713594 rs760189358 |
86 | R>G | No |
ExAC gnomAD ClinGen |
|
|
rs201288049 CA136846814 |
86 | R>Q | No |
Ensembl ClinGen |
|
| rs1200739742 | 86 | R>S | No | gnomAD | |
|
CA363326444 rs760189358 |
86 | R>W | No |
ExAC gnomAD ClinGen |
|
| rs202084376 | 88 | G>V | No |
ExAC TOPMed gnomAD |
|
|
rs1187793022 CA363326606 |
90 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
| rs1443799435 | 91 | P>I | No |
TOPMed gnomAD |
|
|
CA363326631 rs1435233936 |
91 | P>R | No |
TOPMed gnomAD ClinGen |
|
|
rs764776393 CA3713598 |
91 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs200454925 | 92 | A>N | No |
ExAC TOPMed gnomAD |
|
|
rs1426335303 CA363326685 |
94 | Q>* | No |
ClinGen gnomAD |
|
|
CA3713600 rs759006946 |
94 | Q>R | No |
ExAC gnomAD ClinGen |
|
|
CA363326702 rs1403959711 |
95 | D>N | No |
gnomAD ClinGen |
|
|
CA363326737 rs1398055862 |
96 | R>C | No |
gnomAD ClinGen |
|
|
CA3713601 rs777929159 |
96 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
| rs774810135 | 96 | R>L | No |
ExAC TOPMed gnomAD |
|
|
CA363326759 rs1268674825 |
97 | H>Q | No |
TOPMed ClinGen |
|
|
CA363326755 rs1224897537 |
97 | H>R | No |
gnomAD ClinGen |
|
|
rs533781175 CA3713602 |
97 | H>Y | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
| rs1309564110 | 98 | G>P | No | gnomAD | |
| rs1381538577 | 99 | D>N | No | gnomAD | |
| rs544896018 | 100 | T>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs973490545 | 100 | T>H | No |
TOPMed gnomAD |
|
| rs973490545 | 100 | T>L | No |
TOPMed gnomAD |
|
|
CA363326852 rs1318462603 |
100 | T>M | No |
TOPMed gnomAD ClinGen |
|
| rs200921108 | 104 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1456508425 | 105 | A>I | No | gnomAD | |
| rs767926879 | 105 | A>V | No |
ExAC gnomAD |
|
| rs369075113 | 106 | A>R | No |
ESP ExAC gnomAD |
|
|
rs199875424 CA136846851 |
107 | R>H | No |
ClinGen Ensembl |
|
| rs756356865 | 107 | R>M | No |
ExAC gnomAD |
|
|
rs1260766019 CA363327098 |
108 | Q>R | No |
gnomAD ClinGen |
|
|
rs1200739742 CA363327120 |
109 | G>S | No |
gnomAD ClinGen |
|
|
CA3713606 rs202084376 |
111 | D>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1443799435 CA363330355 |
114 | T>I | No |
ClinGen TOPMed gnomAD |
|
| rs1180311126 | 114 | T>N | No | gnomAD | |
| rs1193056054 | 115 | D>A | No | TOPMed | |
| rs754045891 | 115 | D>L | No |
ExAC gnomAD |
|
|
CA3713632 rs200454925 |
115 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1469065745 | 116 | F>D | No | TOPMed | |
|
CA3713633 rs774810135 |
119 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1309564110 CA363330521 |
121 | L>P | No |
gnomAD ClinGen |
|
|
rs1381538577 CA363330545 |
122 | S>N | No |
gnomAD ClinGen |
|
|
COSM1077578 CA3713635 rs544896018 |
123 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs973490545 CA363330552 |
123 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA136852533 rs973490545 |
123 | R>L | No |
TOPMed gnomAD ClinGen |
|
| rs1252661470 | 124 | C>R | No | TOPMed | |
| rs755061859 | 126 | S>Y | No |
ExAC gnomAD |
|
|
CA3713637 rs200921108 |
127 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA363330640 rs1456508425 |
128 | M>I | No |
gnomAD ClinGen |
|
| rs1169661545 | 128 | M>T | No | gnomAD | |
|
rs767926879 CA3713638 |
128 | M>V | No |
ClinGen ExAC gnomAD |
|
| rs373866765 | 128 | M>V | No |
ESP TOPMed gnomAD |
|
|
CA3713639 rs369075113 |
129 | G>R | No |
ESP ExAC gnomAD ClinGen |
|
|
CA3713640 rs756356865 |
130 | I>M | No |
ExAC gnomAD ClinGen |
|
| rs1466761567 | 131 | K>A | No | gnomAD | |
| rs1261697958 | 133 | K>K | No | TOPMed | |
| rs1261697958 | 133 | K>Q | No | TOPMed | |
| rs778916931 | 134 | D>G | No |
ExAC gnomAD |
|
| rs1215626107 | 136 | E>T | No | TOPMed | |
|
rs1180311126 CA363330895 |
137 | T>N | No |
gnomAD ClinGen |
|
|
CA363330903 rs1193056054 |
138 | P>A | No |
TOPMed ClinGen |
|
|
CA3713642 rs754045891 |
138 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
| rs1304224086 | 138 | P>Q | No | gnomAD | |
|
rs1469065745 CA363330925 |
139 | G>D | No |
TOPMed ClinGen |
|
| TCGA novel | 140 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs201714450 | 140 | Q>Q | No |
ExAC TOPMed gnomAD |
|
| rs527461785 | 140 | Q>W | No |
1000Genomes ExAC gnomAD |
|
| rs199905722 | 141 | I>K | No | gnomAD | |
| rs199905722 | 141 | I>Q | No | gnomAD | |
| rs145970127 | 142 | L>C | No |
ESP gnomAD |
|
| rs929331084 | 142 | L>R | No | Ensembl | |
|
rs1252661470 CA363331199 |
147 | P>R | No |
TOPMed ClinGen |
|
| rs745683230 | 148 | W>A | No |
ExAC TOPMed gnomAD |
|
| rs745683230 | 148 | W>D | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 148 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1220967851 | 148 | W>R | No | gnomAD | |
| rs745683230 | 148 | W>V | No |
ExAC TOPMed gnomAD |
|
|
rs755061859 CA3713643 |
149 | D>Y | No |
ClinGen ExAC gnomAD |
|
| rs775189382 | 151 | A>A | No |
ExAC TOPMed gnomAD |
|
|
CA363331305 rs1169661545 |
151 | A>T | No |
gnomAD ClinGen |
|
|
rs373866765 CA136852551 |
151 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP TOPMed gnomAD ClinGen NCI-TCGA |
| rs748954085 | 152 | E>E | No |
ExAC gnomAD |
|
| rs1483467615 | 153 | E>K | No | gnomAD | |
| rs1369689292 | 154 | E>* | No | gnomAD | |
|
CA363331500 rs1466761567 |
154 | E>A | No |
ClinGen gnomAD |
|
| rs768211476 | 154 | E>C | No |
ExAC TOPMed gnomAD |
|
| rs762351932 | 156 | E>G | No |
ExAC gnomAD |
|
| rs773742151 | 156 | E>K | No |
ExAC gnomAD |
|
|
rs1261697958 CA363331588 |
156 | E>K | No |
TOPMed ClinGen |
|
|
CA363331593 rs1261697958 |
156 | E>Q | No |
TOPMed ClinGen |
|
|
CA3713644 rs778916931 |
157 | D>G | No |
ExAC gnomAD ClinGen |
|
| rs1300754722 | 158 | D>L | No | TOPMed | |
| rs768161727 | 158 | D>T | No |
ExAC gnomAD |
|
|
rs1215626107 CA363331652 |
159 | A>T | No |
TOPMed ClinGen |
|
|
rs746944162 CA3713645 |
160 | S>F | No |
ExAC gnomAD ClinGen |
|
|
CA363331762 rs1304224086 |
161 | K>Q | No |
ClinGen gnomAD |
|
| rs1412206436 | 162 | E>V | No | gnomAD | |
| rs1005594754 | 163 | R>D | No | TOPMed | |
|
rs201714450 CA3713647 |
163 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs1177814272 | 163 | R>S | No | gnomAD | |
|
CA3713646 COSM1077579 rs527461785 |
163 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
| rs201030042 | 164 | E>G | No | Ensembl | |
|
CA363331851 rs199905722 |
164 | E>K | No |
ClinGen gnomAD |
|
|
CA136852583 rs199905722 |
164 | E>Q | No |
gnomAD ClinGen |
|
|
CA136852606 rs145970127 |
165 | W>C | No |
ESP gnomAD ClinGen |
|
|
rs929331084 CA136852596 |
165 | W>R | No |
ClinGen Ensembl |
|
| rs1583013063 | 165 | W>T | No | Ensembl | |
| rs1368377605 | 165 | W>V | No | gnomAD | |
| rs1017442981 | 166 | R>F | No |
TOPMed gnomAD |
|
| rs139890240 | 166 | R>T | No | ESP | |
| rs755927286 | 167 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs779783017 | 169 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs201991155 | 170 | Q>R | No |
ExAC gnomAD |
|
|
CA3713650 rs745683230 |
171 | G>A | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs1005594754 | 171 | G>D | No | TOPMed | |
|
rs745683230 CA3713649 |
171 | G>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363332258 rs1220967851 |
171 | G>R | No |
gnomAD ClinGen |
|
|
rs745683230 CA363332259 |
171 | G>V | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs201030042 | 172 | E>G | No | Ensembl | |
| rs1583013063 | 173 | L>T | No | Ensembl | |
| rs1368377605 | 173 | L>V | No | gnomAD | |
|
rs775189382 CA3713652 |
174 | E>A | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs1017442981 | 174 | E>F | No |
TOPMed gnomAD |
|
| rs139890240 | 174 | E>T | No | ESP | |
|
CA363332338 rs748954085 |
175 | D>E | No |
ExAC gnomAD ClinGen |
|
| rs755927286 | 175 | D>R | No |
ExAC TOPMed gnomAD |
|
|
CA363332339 rs1483467615 |
176 | E>K | No |
gnomAD ClinGen |
|
|
CA363332363 rs1369689292 |
177 | W>* | No |
gnomAD ClinGen |
|
|
rs768211476 CA363332374 CA3713654 |
177 | W>C | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs779783017 | 177 | W>I | No |
ExAC TOPMed gnomAD |
|
| rs201221034 | 178 | Q>* | No |
TOPMed gnomAD |
|
| rs201991155 | 178 | Q>R | No |
ExAC gnomAD |
|
| rs201221034 | 178 | Q>S | No |
TOPMed gnomAD |
|
|
rs762351932 CA3713657 |
179 | E>G | No |
ExAC gnomAD ClinGen |
|
|
CA3713656 rs773742151 |
179 | E>K | No |
ClinGen ExAC gnomAD |
|
| rs1562456761 | 179 | E>L | No | Ensembl | |
| rs771750904 | 181 | M>C | No |
ExAC TOPMed gnomAD |
|
| rs1176403278 | 181 | M>H | No | gnomAD | |
|
rs1300754722 CA363332461 |
181 | M>L | No |
TOPMed ClinGen |
|
| rs771750904 | 181 | M>S | No |
ExAC TOPMed gnomAD |
|
|
rs768161727 CA3713658 |
181 | M>T | No |
ExAC gnomAD ClinGen |
|
| rs200114883 | 184 | F>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs766761473 | 184 | F>Q | No |
ExAC TOPMed gnomAD |
|
| rs200114883 | 184 | F>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA363332579 rs1412206436 |
185 | E>V | No |
ClinGen gnomAD |
|
| rs201221034 | 186 | G>* | No |
TOPMed gnomAD |
|
|
CA136852799 rs1005594754 |
186 | G>D | No |
TOPMed ClinGen |
|
|
rs1177814272 CA363332588 |
186 | G>S | No |
gnomAD ClinGen |
|
| rs201221034 | 186 | G>S | No |
TOPMed gnomAD |
|
|
rs201030042 CA136852800 |
187 | D>G | No |
Ensembl ClinGen |
|
| rs1562456761 | 187 | D>L | No | Ensembl | |
| rs1390436209 | 187 | D>T | No | gnomAD | |
|
CA363332713 rs1583013063 |
188 | A>T | No |
ClinGen Ensembl |
|
|
CA363332722 rs1368377605 |
188 | A>V | No |
gnomAD ClinGen |
|
| rs771750904 | 189 | S>C | No |
ExAC TOPMed gnomAD |
|
|
CA136852806 rs1017442981 |
189 | S>F | No |
TOPMed gnomAD ClinGen |
|
| rs1176403278 | 189 | S>H | No | gnomAD | |
| rs771750904 | 189 | S>S | No |
ExAC TOPMed gnomAD |
|
|
rs139890240 CA136852804 |
189 | S>T | No |
ESP ClinGen |
|
|
rs755927286 CA3713669 |
190 | H>R | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs1472519610 | 190 | H>S | No |
TOPMed gnomAD |
|
| rs973439667 | 191 | E>R | No | Ensembl | |
| rs1414017135 | 191 | E>V | No | TOPMed | |
| rs201266421 | 192 | T>* | No | Ensembl | |
| rs200114883 | 192 | T>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1027713061 | 192 | T>H | No |
TOPMed gnomAD |
|
|
rs779783017 CA3713670 |
192 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs1167506731 | 192 | T>R | No | TOPMed | |
| rs200114883 | 192 | T>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1350543046 | 193 | Q>* | No | gnomAD | |
|
CA3713672 rs201991155 |
193 | Q>R | No |
ExAC gnomAD ClinGen |
|
| rs1307373557 | 195 | P>* | No | gnomAD | |
| rs776864117 | 195 | P>Q | No |
ExAC gnomAD |
|
| rs1390436209 | 195 | P>T | No | gnomAD | |
| TCGA novel | 197 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 197 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1472519610 | 198 | F>S | No |
TOPMed gnomAD |
|
| rs973439667 | 199 | S>R | No | Ensembl | |
| rs201266421 | 200 | A>* | No | Ensembl | |
| rs1027713061 | 200 | A>H | No |
TOPMed gnomAD |
|
| rs1167506731 | 200 | A>R | No | TOPMed | |
| rs1350543046 | 201 | W>* | No | gnomAD | |
|
CA363332978 rs201221034 |
201 | W>* | No |
ClinGen TOPMed gnomAD |
|
| rs3130062 | 201 | W>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs3130062 | 201 | W>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA136852825 rs201221034 |
201 | W>S | No |
TOPMed gnomAD ClinGen |
|
|
CA363333010 rs1562456761 |
202 | S>L | No |
Ensembl ClinGen |
|
| rs372327185 | 202 | S>Q | No |
ExAC TOPMed gnomAD |
|
| rs1307373557 | 203 | D>* | No | gnomAD | |
| rs776864117 | 203 | D>Q | No |
ExAC gnomAD |
|
|
rs771750904 CA3713677 |
204 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA363333050 rs1176403278 |
204 | R>H | No |
ClinGen gnomAD |
|
|
rs771750904 CA3713676 |
204 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs200245859 | 205 | L>H | No |
TOPMed gnomAD |
|
| rs200245859 | 205 | L>L | No |
TOPMed gnomAD |
|
| rs764218918 | 205 | L>S | No |
ExAC TOPMed gnomAD |
|
| rs1425534376 | 205 | L>T | No | gnomAD | |
|
CA363333084 rs1414017135 |
206 | A>V | No |
TOPMed ClinGen |
|
|
rs200114883 CA363333087 |
207 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs1249230429 | 207 | R>K | No | TOPMed | |
|
CA3713679 rs766761473 |
207 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs200114883 CA3713678 |
207 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs1309487857 | 209 | H>F | No | gnomAD | |
| rs1353979635 | 209 | H>F | No | gnomAD | |
| rs3130062 | 209 | H>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs3130062 | 209 | H>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs555154249 | 210 | A>N | No |
1000Genomes ExAC gnomAD |
|
| rs372327185 | 210 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs372327185 | 210 | A>Q | No |
ExAC TOPMed gnomAD |
|
|
CA363333132 rs1390436209 |
210 | A>T | No |
gnomAD ClinGen |
|
| rs764218918 | 213 | C>C | No |
ExAC TOPMed gnomAD |
|
| rs749060023 | 213 | C>C | No |
ExAC gnomAD |
|
| rs200245859 | 213 | C>H | No |
TOPMed gnomAD |
|
| rs200245859 | 213 | C>L | No |
TOPMed gnomAD |
|
| rs1354811322 | 213 | C>R | No | gnomAD | |
| rs764218918 | 213 | C>S | No |
ExAC TOPMed gnomAD |
|
|
rs1472519610 CA363333206 |
213 | C>S | No |
ClinGen TOPMed gnomAD |
|
| rs201798828 | 214 | Q>L | No |
ExAC TOPMed gnomAD |
|
| rs201798828 | 214 | Q>Q | No |
ExAC TOPMed gnomAD |
|
|
rs973439667 CA136852877 |
214 | Q>R | No |
ClinGen Ensembl |
|
| rs1465192596 | 215 | Q>* | No | gnomAD | |
|
rs201266421 CA136852881 |
215 | Q>* | No |
Ensembl ClinGen |
|
|
rs1027713061 CA136852885 |
215 | Q>H | No |
TOPMed gnomAD ClinGen |
|
| rs1249230429 | 215 | Q>K | No | TOPMed | |
|
rs1167506731 CA363333233 |
215 | Q>R | No |
ClinGen TOPMed |
|
|
rs1350543046 CA363333242 |
216 | Q>* | No |
gnomAD ClinGen |
|
| rs1309487857 | 217 | Q>F | No | gnomAD | |
| rs778678826 | 217 | Q>K | No |
ExAC gnomAD |
|
|
rs1307373557 CA363333297 |
218 | R>* | No |
gnomAD ClinGen |
|
| rs555154249 | 218 | R>N | No |
1000Genomes ExAC gnomAD |
|
|
rs776864117 CA3713681 |
218 | R>Q | Variant assessed as Somatic; 0.0001884 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA363333337 rs1425534376 |
220 | A>T | No |
gnomAD ClinGen |
|
| rs749060023 | 221 | E>C | No |
ExAC gnomAD |
|
| rs369227078 | 221 | E>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs201798828 | 222 | G>L | No |
ExAC TOPMed gnomAD |
|
| rs201798828 | 222 | G>Q | No |
ExAC TOPMed gnomAD |
|
| rs1465192596 | 223 | S>* | No | gnomAD | |
| rs777001927 | 223 | S>L | No |
ExAC gnomAD |
|
|
rs3130062 CA3713684 VAR_017798 |
224 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1353979635 | 224 | R>F | No | gnomAD | |
|
rs3130062 CA363333452 |
224 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1216698716 | 224 | R>G | No | gnomAD | |
|
CA363333461 rs1353979635 |
224 | R>L | No |
ClinGen gnomAD |
|
| rs3130062 | 224 | R>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1317995022 | 225 | R>G | No | gnomAD | |
| rs778678826 | 225 | R>K | No |
ExAC gnomAD |
|
| rs1259494445 | 225 | R>K | No | gnomAD | |
|
CA363333477 rs372327185 |
225 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs372327185 CA3713685 |
225 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs759845940 | 226 | P>* | No |
ExAC TOPMed gnomAD |
|
| rs759845940 | 226 | P>G | No |
ExAC TOPMed gnomAD |
|
| rs139013393 | 226 | P>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs775101805 | 227 | P>G | No |
ExAC gnomAD |
|
|
CA3713686 rs764218918 |
228 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs200245859 CA136852935 |
228 | R>H | No |
TOPMed gnomAD ClinGen |
|
|
rs200245859 CA363333528 |
228 | R>L | No |
TOPMed gnomAD ClinGen |
|
|
CA363333519 rs764218918 |
228 | R>S | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs1189998986 | 228 | R>W | No |
TOPMed gnomAD |
|
| rs201627837 | 229 | A>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs72847261 | 229 | A>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs201627837 | 229 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs369227078 | 229 | A>W | No |
ESP ExAC TOPMed gnomAD |
|
|
CA363333545 rs1249230429 |
230 | E>K | No |
ClinGen TOPMed |
|
| rs751655990 | 231 | G>K | No |
ExAC gnomAD |
|
| rs777001927 | 231 | G>L | No |
ExAC gnomAD |
|
| rs975103303 | 232 | S>D | No | TOPMed | |
|
CA363333614 rs1309487857 |
232 | S>F | No |
ClinGen gnomAD |
|
| rs1216698716 | 232 | S>G | No | gnomAD | |
| rs373041732 | 233 | S>D | No |
ESP ExAC gnomAD |
|
| rs1317995022 | 233 | S>G | No | gnomAD | |
| rs1259494445 | 233 | S>K | No | gnomAD | |
|
CA3713688 rs555154249 |
233 | S>N | No |
1000Genomes ExAC gnomAD ClinGen |
|
| rs759845940 | 234 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs759845940 | 234 | Q>G | No |
ExAC TOPMed gnomAD |
|
| rs139013393 | 234 | Q>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs199596929 | 235 | S>C | No | Ensembl | |
| rs200637918 | 235 | S>H | No |
ExAC TOPMed gnomAD |
|
|
rs749060023 CA3713690 |
236 | W>C | No |
ExAC gnomAD ClinGen |
|
| rs149963082 | 236 | W>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363333714 rs1354811322 |
236 | W>R | No |
gnomAD ClinGen |
|
| rs1189998986 | 236 | W>W | No |
TOPMed gnomAD |
|
|
rs201798828 CA363333734 |
237 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs201627837 | 237 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs201798828 CA3713691 |
237 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs753854522 | 237 | R>R | No |
ExAC TOPMed gnomAD |
|
|
CA363333748 rs1465192596 |
238 | Q>* | No |
ClinGen gnomAD |
|
| rs201673388 | 238 | Q>P | No |
ExAC TOPMed gnomAD |
|
| rs201673388 | 238 | Q>Q | No |
ExAC TOPMed gnomAD |
|
| rs1169152699 | 238 | Q>R | No | gnomAD | |
| rs751655990 | 239 | Q>K | No |
ExAC gnomAD |
|
| rs975103303 | 240 | E>D | No | TOPMed | |
|
rs778678826 CA3713692 |
240 | E>K | No |
ClinGen ExAC gnomAD |
|
| rs1179129636 | 240 | E>T | No | TOPMed | |
| rs373041732 | 241 | E>D | No |
ESP ExAC gnomAD |
|
|
rs775101805 CA3713693 |
242 | E>G | No |
ExAC gnomAD ClinGen |
|
| rs752392625 | 242 | E>V | No |
ExAC gnomAD |
|
| rs1253285930 | 243 | Q>* | No | TOPMed | |
| rs199596929 | 243 | Q>C | No | Ensembl | |
| TCGA novel | 243 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs200637918 | 243 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs777359918 | 243 | Q>P | No |
ExAC TOPMed gnomAD |
|
| rs777359918 | 243 | Q>R | No |
ExAC TOPMed gnomAD |
|
|
rs72847261 CA3713696 |
244 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369227078 CA3713695 |
244 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs753854522 | 245 | L>R | No |
ExAC TOPMed gnomAD |
|
|
rs777001927 CA3713698 |
246 | F>L | No |
ClinGen ExAC gnomAD |
|
| rs201673388 | 246 | F>P | No |
ExAC TOPMed gnomAD |
|
| rs201673388 | 246 | F>Q | No |
ExAC TOPMed gnomAD |
|
|
rs1216698716 CA363333961 |
247 | R>G | No |
gnomAD ClinGen |
|
| rs199825229 | 247 | R>R | No |
ExAC TOPMed gnomAD |
|
| rs1205578164 | 248 | E>A | No | TOPMed | |
|
rs1317995022 CA363334008 |
248 | E>G | No |
ClinGen gnomAD |
|
|
rs1259494445 CA363333992 COSM741384 |
248 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
| rs1346727469 | 248 | E>N | No |
TOPMed gnomAD |
|
| rs1179129636 | 248 | E>T | No | TOPMed | |
|
rs759845940 CA363334017 |
249 | R>* | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs200733771 | 249 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs759845940 CA363334015 |
249 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1279856981 | 249 | R>Q | No |
TOPMed gnomAD |
|
|
CA3713700 rs139013393 |
249 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs752392625 | 250 | A>V | No |
ExAC gnomAD |
|
| rs777359918 | 251 | R>P | No |
ExAC TOPMed gnomAD |
|
|
rs149963082 CA3713702 |
251 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
| rs777359918 | 251 | R>R | No |
ExAC TOPMed gnomAD |
|
| rs1488167158 | 251 | R>S | No | gnomAD | |
|
CA363334038 rs1189998986 |
251 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
rs201627837 CA363334076 |
252 | A>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs201627837 CA3713703 |
252 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1169152699 CA363334110 |
253 | K>R | No |
ClinGen gnomAD |
|
| rs1192135649 | 253 | K>S | No | gnomAD | |
|
rs751655990 CA3713704 |
254 | E>K | No |
ExAC gnomAD ClinGen |
|
| rs1265905739 | 254 | E>S | No | gnomAD | |
|
CA136853060 rs975103303 |
255 | E>D | No |
TOPMed ClinGen |
|
| rs201719112 | 255 | E>G | No |
ExAC gnomAD |
|
| rs199825229 | 255 | E>R | No |
ExAC TOPMed gnomAD |
|
| rs1205578164 | 256 | E>A | No | TOPMed | |
|
rs373041732 CA3713705 |
256 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
| rs1461793520 | 256 | E>G | No | gnomAD | |
| rs1346727469 | 256 | E>N | No |
TOPMed gnomAD |
|
| rs1198204053 | 256 | E>T | No | gnomAD | |
| rs201206958 | 257 | L>E | No |
ExAC TOPMed gnomAD |
|
| rs200733771 | 257 | L>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1279856981 | 257 | L>Q | No |
TOPMed gnomAD |
|
| rs184070214 | 257 | L>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs201206958 | 257 | L>V | No |
ExAC TOPMed gnomAD |
|
|
CA136853083 rs199596929 |
258 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
Ensembl ClinGen NCI-TCGA |
|
CA3713706 rs200637918 |
258 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs774454136 | 258 | R>S | No |
ExAC gnomAD |
|
| rs1359667217 | 259 | E>G | No | gnomAD | |
| rs201985780 | 260 | S>K | No |
ExAC TOPMed gnomAD |
|
|
CA3713707 rs753854522 |
260 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1299985784 | 261 | R>D | No | gnomAD | |
|
rs201673388 CA136853104 |
261 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs201673388 CA3713709 |
261 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1192135649 | 261 | R>S | No | gnomAD | |
| rs1361041490 | 262 | A>L | No | gnomAD | |
| rs1265905739 | 262 | A>S | No | gnomAD | |
| rs201719112 | 263 | R>G | No |
ExAC gnomAD |
|
|
rs1179129636 CA363334364 |
263 | R>T | No |
TOPMed ClinGen |
|
| rs1461793520 | 264 | R>G | No | gnomAD | |
| rs201206958 | 265 | A>A | No |
ExAC TOPMed gnomAD |
|
| rs201206958 | 265 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs184070214 | 265 | A>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs995312490 | 265 | A>R | No |
TOPMed gnomAD |
|
| rs201206958 | 265 | A>V | No |
ExAC TOPMed gnomAD |
|
|
CA3713710 rs752392625 |
265 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1253285930 CA363334420 |
266 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA363334422 rs777359918 |
266 | Q>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs777359918 CA3713712 |
266 | Q>R | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs774454136 | 266 | Q>S | No |
ExAC gnomAD |
|
| rs767687704 | 266 | Q>V | No |
ExAC TOPMed gnomAD |
|
| rs1027660799 | 267 | E>E | No | gnomAD | |
| rs1359667217 | 267 | E>G | No | gnomAD | |
| rs759581844 | 267 | E>R | No |
ExAC gnomAD |
|
| rs868396638 | 269 | L>D | No | Ensembl | |
| rs1299985784 | 269 | L>D | No | gnomAD | |
| rs1353456313 | 270 | G>G | No | gnomAD | |
| rs1361041490 | 270 | G>L | No | gnomAD | |
|
CA3713714 rs199825229 |
270 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205578164 CA363334476 |
271 | D>A | No |
TOPMed ClinGen |
|
|
CA363334471 rs1346727469 |
271 | D>N | No |
TOPMed gnomAD ClinGen |
|
|
rs200733771 CA3713715 |
272 | R>G | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA363334485 rs1279856981 |
272 | R>Q | No |
TOPMed gnomAD ClinGen |
|
| rs373512256 | 273 | E>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs373512256 | 273 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs995312490 | 273 | E>R | No |
TOPMed gnomAD |
|
|
rs1488167158 CA363334508 |
274 | P>S | No |
ClinGen gnomAD |
|
| rs767687704 | 274 | P>V | No |
ExAC TOPMed gnomAD |
|
| rs1027660799 | 275 | K>E | No | gnomAD | |
| rs759581844 | 275 | K>R | No |
ExAC gnomAD |
|
|
rs1192135649 CA363334533 |
276 | P>S | No |
ClinGen gnomAD |
|
| rs868396638 | 277 | T>D | No | Ensembl | |
| rs1486503007 | 277 | T>M | No | gnomAD | |
|
rs1265905739 CA363334548 |
277 | T>S | No |
gnomAD ClinGen |
|
| rs1353456313 | 278 | R>G | No | gnomAD | |
|
rs201719112 CA3713716 |
278 | R>G | No |
ExAC gnomAD ClinGen |
|
| rs867085570 | 278 | R>S | No | Ensembl | |
| rs867085570 | 278 | R>T | No | Ensembl | |
|
CA363334576 rs1461793520 |
279 | A>G | No |
gnomAD ClinGen |
|
|
rs1198204053 CA363334569 |
279 | A>T | No |
gnomAD ClinGen |
|
|
CA3713720 rs201206958 |
280 | G>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3713718 rs201206958 |
280 | G>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs184070214 CA3713717 |
280 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1395186732 | 280 | G>S | No | TOPMed | |
|
CA3713719 rs201206958 |
280 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1554278655 | 281 | P>* | No | Ensembl | |
| rs373512256 | 281 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs373512256 | 281 | P>Q | No |
ESP ExAC TOPMed gnomAD |
|
|
rs774454136 CA3713721 |
281 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs1192553202 | 281 | P>Y | No | TOPMed | |
|
rs1359667217 CA363334596 |
282 | R>G | No |
ClinGen gnomAD |
|
| rs867570631 | 282 | R>T | No | Ensembl | |
| rs1265439950 | 283 | E>E | No | gnomAD | |
|
rs201985780 CA3713722 |
283 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 283 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299985784 CA363334634 |
284 | E>D | No |
ClinGen gnomAD |
|
|
rs1361041490 CA363334643 |
285 | H>L | No |
gnomAD ClinGen |
|
| rs1486503007 | 285 | H>M | No | gnomAD | |
| rs200883169 | 285 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs867085570 | 286 | P>S | No | Ensembl | |
| rs867085570 | 286 | P>T | No | Ensembl | |
| rs1360420695 | 288 | G>D | No | gnomAD | |
|
rs995312490 CA136853150 |
288 | G>R | No |
TOPMed gnomAD ClinGen |
|
| rs1395186732 | 288 | G>S | No | TOPMed | |
| rs1554278655 | 289 | A>* | No | Ensembl | |
|
CA3713723 rs767687704 |
289 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs1192553202 | 289 | A>Y | No | TOPMed | |
|
rs1027660799 CA136853171 |
290 | G>E | No |
gnomAD ClinGen |
|
|
CA3713725 TCGA novel rs759581844 |
290 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ExAC gnomAD NCI-TCGA ClinGen |
| rs1265439950 | 291 | R>E | No | gnomAD | |
| rs1193706894 | 291 | R>V | No | TOPMed | |
|
rs868396638 CA136853180 |
292 | G>D | No |
Ensembl ClinGen |
|
| rs1282111644 | 292 | G>E | No | TOPMed | |
| rs1446331715 | 292 | G>T | No | TOPMed | |
|
CA363334723 rs1353456313 |
293 | S>G | No |
ClinGen gnomAD |
|
| rs200883169 | 293 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs1202135549 | 293 | S>T | No | TOPMed | |
| rs1360420695 | 296 | R>D | No | gnomAD | |
|
CA136853194 rs373512256 |
296 | R>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs373512256 CA3713726 |
296 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1160274221 | 298 | G>D | No | gnomAD | |
| rs1193706894 | 299 | D>V | No | TOPMed | |
| rs1282111644 | 300 | V>E | No | TOPMed | |
|
rs1486503007 CA363334817 |
300 | V>M | No |
ClinGen gnomAD |
|
| rs1446331715 | 300 | V>T | No | TOPMed | |
|
CA363334824 rs867085570 |
301 | P>S | No |
ClinGen Ensembl |
|
| rs1202135549 | 301 | P>T | No | TOPMed | |
|
CA136853219 rs867085570 |
301 | P>T | No |
Ensembl ClinGen |
|
|
rs1395186732 CA363334839 |
303 | P>S | No |
TOPMed ClinGen |
|
|
rs1554278655 CA363334849 |
304 | C>* | No |
Ensembl ClinGen |
|
| rs1038431138 | 304 | C>E | No | TOPMed | |
|
rs1192553202 CA363334846 |
304 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
| rs756698471 | 305 | P>S | No |
ExAC TOPMed gnomAD |
|
|
CA136853234 rs867570631 |
305 | P>T | No |
Ensembl ClinGen |
|
| rs1160274221 | 306 | G>D | No | gnomAD | |
|
CA363334859 rs1265439950 |
306 | G>E | No |
gnomAD ClinGen |
|
| rs1457400677 | 306 | G>T | No | gnomAD | |
| rs1320494324 | 308 | G>K | No | gnomAD | |
|
CA363334868 CA3713728 rs200883169 |
308 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs561141741 | 309 | D>S | No |
1000Genomes gnomAD |
|
|
CA363334893 rs1360420695 |
311 | E>D | No |
gnomAD ClinGen |
|
| rs1038431138 | 312 | A>E | No | TOPMed | |
| rs1457400677 | 314 | A>P | No | gnomAD | |
| rs1457400677 | 314 | A>T | No | gnomAD | |
|
CA363334915 rs1193706894 |
314 | A>V | No |
ClinGen TOPMed |
|
| rs1241829681 | 315 | A>* | No | gnomAD | |
|
rs1282111644 CA363334919 |
315 | A>E | No |
TOPMed ClinGen |
|
|
CA363334916 rs1446331715 |
315 | A>T | No |
ClinGen TOPMed |
|
| rs1320494324 | 316 | A>K | No | gnomAD | |
|
rs1202135549 CA363334924 |
316 | A>T | No |
ClinGen TOPMed |
|
| rs200385924 | 317 | L>C | No |
ExAC TOPMed gnomAD |
|
| rs746296465 | 317 | L>H | No |
ExAC TOPMed gnomAD |
|
| rs561141741 | 317 | L>S | No |
1000Genomes gnomAD |
|
| rs1264141786 | 319 | A>L | No | gnomAD | |
| TCGA novel | 320 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756698471 CA363334951 |
320 | R>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363334955 rs1160274221 |
321 | G>D | No |
gnomAD ClinGen |
|
| rs201771654 | 322 | P>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1241829681 | 323 | P>* | No | gnomAD | |
| rs1408531394 | 324 | L>P | No | gnomAD | |
| TCGA novel | 325 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs200385924 | 325 | E>C | No |
ExAC TOPMed gnomAD |
|
| rs746296465 | 325 | E>H | No |
ExAC TOPMed gnomAD |
|
| rs1024714605 | 325 | E>R | No | Ensembl | |
| rs750318598 | 326 | E>* | No | TOPMed | |
|
rs1038431138 CA136853242 |
327 | Q>E | No |
ClinGen TOPMed |
|
| rs1264141786 | 327 | Q>L | No | gnomAD | |
| rs1162617767 | 328 | G>* | No | gnomAD | |
| rs769052971 | 328 | G>Q | No |
ExAC TOPMed gnomAD |
|
| rs980736702 | 329 | A>N | No | TOPMed | |
|
CA363335049 rs1457400677 |
329 | A>P | No |
gnomAD ClinGen |
|
|
rs1457400677 CA363335048 |
329 | A>T | No |
gnomAD ClinGen |
|
| rs200927319 | 330 | L>C | No |
ExAC TOPMed gnomAD |
|
| rs201771654 | 330 | L>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1457999227 | 330 | L>R | No |
TOPMed gnomAD |
|
|
CA363335069 rs1320494324 |
331 | R>K | No |
gnomAD ClinGen |
|
| rs1280915302 | 332 | R>K | No | gnomAD | |
|
CA136853263 rs561141741 |
332 | R>S | No |
1000Genomes gnomAD ClinGen |
|
| rs1024714605 | 333 | Y>R | No | Ensembl | |
| rs750318598 | 334 | L>* | No | TOPMed | |
| rs200263345 | 334 | L>Q | No |
ExAC TOPMed gnomAD |
|
| rs1162617767 | 336 | V>* | No | gnomAD | |
| rs769052971 | 336 | V>Q | No |
ExAC TOPMed gnomAD |
|
| rs980736702 | 337 | Q>N | No | TOPMed | |
|
CA363335162 rs1241829681 |
338 | Q>* | No |
gnomAD ClinGen |
|
| rs774418376 | 338 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs774418376 | 338 | Q>P | No |
ExAC TOPMed gnomAD |
|
| rs1457999227 | 338 | Q>R | No |
TOPMed gnomAD |
|
|
rs200385924 CA3713733 |
340 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs746296465 CA3713734 |
340 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1280915302 | 340 | R>K | No | gnomAD | |
| rs201543626 | 340 | R>T | No |
ExAC gnomAD |
|
|
CA363335202 rs1264141786 |
342 | H>L | No |
gnomAD ClinGen |
|
| TCGA novel | 344 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs866219695 | 344 | D>K | No | Ensembl | |
|
rs200927319 CA3713735 |
345 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs201771654 CA3713736 |
345 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs774418376 | 346 | F>H | No |
ExAC TOPMed gnomAD |
|
| rs1374523540 | 347 | L>F | No | gnomAD | |
|
CA363335258 rs1408531394 |
347 | L>P | No |
gnomAD ClinGen |
|
| TCGA novel | 348 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1024714605 CA136853283 |
348 | Q>R | No |
ClinGen Ensembl |
|
| rs201543626 | 348 | Q>T | No |
ExAC gnomAD |
|
|
rs750318598 CA136853289 |
349 | R>* | No |
TOPMed ClinGen |
|
|
CA3713737 rs200263345 |
349 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363335304 rs1162617767 |
351 | R>* | No |
gnomAD ClinGen |
|
| rs1395757401 | 351 | R>D | No | gnomAD | |
|
rs769052971 CA3713738 |
351 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs1208251981 | 352 | S>G | No | gnomAD | |
| rs866219695 | 352 | S>K | No | Ensembl | |
|
CA136853310 rs980736702 |
352 | S>N | No |
TOPMed ClinGen |
|
| rs1311245520 | 353 | Q>L | No |
TOPMed gnomAD |
|
|
CA363335333 rs1457999227 |
353 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| rs1324068273 | 354 | I>V | No | gnomAD | |
| rs1374523540 | 355 | E>F | No | gnomAD | |
| rs1246260418 | 355 | E>G | No |
TOPMed gnomAD |
|
|
CA363335354 rs1280915302 |
355 | E>K | No |
gnomAD ClinGen |
|
| rs1324382860 | 356 | T>R | No | gnomAD | |
| rs1234409324 | 356 | T>V | No | gnomAD | |
| rs1316144911 | 358 | E>R | No | gnomAD | |
| rs1395757401 | 359 | L>D | No | gnomAD | |
| rs1208251981 | 360 | G>G | No | gnomAD | |
|
CA3713739 rs774418376 |
361 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs1311245520 | 361 | R>L | No |
TOPMed gnomAD |
|
|
rs774418376 CA363335433 |
361 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1324068273 | 362 | V>V | No | gnomAD | |
| rs1246260418 | 363 | M>G | No |
TOPMed gnomAD |
|
|
CA3713740 rs201543626 |
363 | M>T | No |
ExAC gnomAD ClinGen |
|
| rs1234409324 | 364 | G>V | No | gnomAD | |
| rs1316144911 | 366 | V>R | No | gnomAD | |
|
CA136853323 rs866219695 |
367 | T>K | No |
Ensembl ClinGen |
|
|
CA363335547 rs1374523540 |
370 | S>F | No |
gnomAD ClinGen |
|
|
CA363335557 rs1324382860 |
371 | Q>R | No |
gnomAD ClinGen |
|
|
rs1395757401 CA363335588 |
374 | N>D | No |
gnomAD ClinGen |
|
|
CA363335602 rs1208251981 |
375 | R>G | No |
gnomAD ClinGen |
|
|
rs1311245520 CA363335620 |
376 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA363335637 rs1324068273 |
377 | A>V | No |
gnomAD ClinGen |
|
|
rs1246260418 CA363335651 |
378 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1234409324 CA363335685 |
379 | A>V | No |
ClinGen gnomAD |
|
|
rs1316144911 CA363335714 |
381 | K>R | No |
gnomAD ClinGen |
1 associated diseases with Q9UBC1
[MIM: 180300]: Rheumatoid arthritis (RA)
An inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. {ECO:0000305|PubMed:12509789}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Without disease ID
- An inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. {ECO:0000305|PubMed:12509789}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
1 regional properties for Q9UBC1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Ankyrin repeat | 67 - 109 | IPR002110 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to lipopolysaccharide | 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 lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. |
| 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. |
| negative regulation of lipopolysaccharide-mediated signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of signaling in response to detection of lipopolysaccharide. |
| negative regulation of NF-kappaB transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB. |
| negative regulation of toll-like receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate, or extent of toll-like receptor signaling pathway. |
| negative regulation of tumor necrosis factor production | Any process that stops, prevents, or reduces the frequency, rate, or extent of tumor necrosis factor production. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSNPSPQVPE | EEASTSVCRP | KSSMASTSRR | QRRERRFRRY | LSAGRLVRAQ | ALLQRHPGLD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VDAGQPPPLH | RACARHDAPA | LCLLLRLGAD | PAHQDRHGDT | ALHAAARQGP | DAYTDFFLPL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LSRCPSAMGI | KNKDGETPGQ | ILGWGPPWDS | AEEEEEDDAS | KEREWRQKLQ | GELEDEWQEV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MGRFEGDASH | ETQEPESFSA | WSDRLAREHA | QKCQQQQREA | EGSRRPPRAE | GSSQSWRQQE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EEQRLFRERA | RAKEEELRES | RARRAQEALG | DREPKPTRAG | PREEHPRGAG | RGSLWRFGDV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PWPCPGGGDP | EAMAAALVAR | GPPLEEQGAL | RRYLRVQQVR | WHPDRFLQRF | RSQIETWELG |
| 370 | 380 | ||||
| RVMGAVTALS | QALNRHAEAL | K |