Q92556
EV
Gene name |
ELMO1 (KIAA0281) |
Protein name |
Engulfment and cell motility protein 1 |
Names |
Protein ced-12 homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9844 |
EC number |
|
Protein Class |
ENGULFMENT AND CELL MOTILITY (PTHR12771) |
Descriptions
Engulfment and cell motility (ELMO) proteins bind a subset of DOCK members and act as critical regulators of Rac signaling. Although formation of a DOCK180/ELMO complex is not essential for Rac1 activation, ELMO mutants deficient in binding to DOCK180 are unable to promote cytoskeleton remodeling. ELMO facilitates the co-localization of DOCK180 and Rac at the membrane and therefore indirectly endorses the Rac GEF activity of this complex. ELMO is autoinhibited via an intramolecular interaction between the N-terminal Armadillo repeats (ARMs, renamed ELMO Inhibitory Domain (EID)) and the C-terminal region termed the ELMO Autoregulatory Domain (EAD). Relief of ELMO autoinhibition occurs through cell stimulation and ELMO Ras-binding domain (RBD) engagement (via a GTPase or other unknown binding partner). Cell stimulation leads to ELMO conformational changes that facilitate DOCK180/ELMO interactions, which in turn enhances the Rac GEF activity in DOCK180.
Autoinhibitory domains (AIDs)
Target domain |
1-113 (Ras-binding domain) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay, Mutagenesis experiment |
Target domain |
1-113 (Ras-binding domain) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay, Mutagenesis experiment |
Accessory elements
No accessory elements
References
- Patel M et al. (2011) "The Arf family GTPase Arl4A complexes with ELMO proteins to promote actin cytoskeleton remodeling and reveals a versatile Ras-binding domain in the ELMO proteins family", The Journal of biological chemistry, 286, 38969-79
- Patel M et al. (2010) "An evolutionarily conserved autoinhibitory molecular switch in ELMO proteins regulates Rac signaling", Current biology : CB, 20, 2021-7
- Patel M et al. (2011) "Opening up on ELMO regulation: New insights into the control of Rac signaling by the DOCK180/ELMO complex", Small GTPases, 2, 268-275
Autoinhibited structure
Activated structure
9 structures for Q92556
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2RQR | NMR | - | A | 697-722 | PDB |
| 2VSZ | X-ray | 230 A | A/B | 532-675 | PDB |
| 3A98 | X-ray | 210 A | B/D | 532-727 | PDB |
| 6JPP | NMR | - | A | 1-113 | PDB |
| 6TGB | EM | 550 A | B | 1-727 | PDB |
| 6TGC | EM | 410 A | B/E | 1-727 | PDB |
| 7DPA | EM | 380 A | C/F | 1-727 | PDB |
| 7Y4A | X-ray | 160 A | B/D/F/H | 1-82 | PDB |
| AF-Q92556-F1 | Predicted | AlphaFoldDB |
537 variants for Q92556
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA367276381 rs1329010889 |
2 | P>L | No |
ClinGen TOPMed |
|
|
rs1353387163 CA367276376 |
3 | P>S | No |
ClinGen TOPMed |
|
|
rs1439619628 CA367276370 |
4 | P>S | No |
ClinGen TOPMed |
|
|
CA4221765 COSM70596 rs146510671 |
5 | A>T | ovary Variant assessed as Somatic; MODERATE impact. pancreas [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA157469364 COSM1450575 rs554916711 |
5 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
| COSM3638500 | 6 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1233066187 CA367276353 |
7 | I>V | No |
ClinGen TOPMed |
|
| COSM5765059 | 8 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs267601505 CA157469363 |
10 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 11 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3638498 | 14 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA367276293 rs1384206207 |
15 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1288452051 CA367276292 |
16 | G>S | No |
ClinGen gnomAD |
|
|
COSM186923 CA157469360 rs919445189 |
17 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4221759 rs753956359 |
19 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1296149656 CA367276263 |
20 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA367276264 rs1296149656 |
20 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA367276252 rs1562629690 |
22 | M>L | No |
ClinGen Ensembl |
|
|
CA367276251 rs1391209484 |
22 | M>T | No |
ClinGen gnomAD |
|
|
rs766966664 COSM4609822 |
29 | P>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
rs1379918743 CA367276063 |
29 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4221733 rs750670212 |
31 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4221732 rs767688149 |
32 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs144166382 CA4221730 |
33 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs997281774 CA367276023 |
35 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs769121748 CA4221729 |
35 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA367276015 rs1289681067 |
36 | E>D | No |
ClinGen TOPMed |
|
| COSM4520684 | 36 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3638497 | 36 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs148906394 CA4221728 |
37 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367276005 rs1381481637 |
38 | C>Y | No |
ClinGen TOPMed |
|
|
CA367275999 rs1470051272 |
39 | D>Y | No |
ClinGen gnomAD |
|
|
rs1374438993 CA367275972 |
41 | W>* | No |
ClinGen gnomAD |
|
|
CA4221713 rs757603040 |
44 | A>V | No |
ClinGen ExAC |
|
| TCGA novel | 45 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM6177943 | 46 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs764587624 CA367275936 CA4221711 |
46 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4221712 rs751782404 |
46 | H>Y | No |
ClinGen ExAC |
|
| COSM1450574 | 47 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1698573 | 47 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4221710 rs763346227 |
51 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM3832733 | 52 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs970147434 CA157466326 |
53 | H>Y | No |
ClinGen TOPMed |
|
|
rs1339960421 COSM3412012 CA367275878 |
55 | D>N | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
|
COSM3880839 CA367275870 rs1194784097 |
56 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed |
|
rs866388636 CA157466325 |
57 | S>L | No |
ClinGen Ensembl |
|
|
CA367275856 rs376004668 |
58 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4221706 rs376004668 |
58 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1251121 TCGA novel rs1240982780 CA367275843 |
59 | F>L | oesophagus Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated gnomAD NCI-TCGA |
| COSM3229044 | 59 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM280775 | 63 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1447764354 CA367275806 |
64 | K>N | No |
ClinGen gnomAD |
|
|
COSM186906 CA4221687 rs767018272 |
66 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1215535046 CA367276187 COSM3942204 |
66 | R>H | Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
CA157456785 rs149722496 |
67 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1271600542 CA367276182 |
67 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs955172803 CA157456783 |
68 | E>G | No |
ClinGen Ensembl |
|
| COSM3778421 | 69 | I>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1257957636 CA367276170 |
69 | I>L | No |
ClinGen TOPMed |
|
|
rs1344333801 CA367276166 |
69 | I>M | No |
ClinGen TOPMed |
|
|
CA367276171 rs1257957636 |
69 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 71 | N>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4892655 | 72 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs768361701 CA4221684 |
73 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA367276141 rs1317968487 |
73 | T>N | No |
ClinGen gnomAD |
|
|
CA367276142 rs768361701 |
73 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs867300194 CA157456779 COSM1205202 |
76 | R>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
|
CA157456777 rs923829225 |
76 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs775198519 CA4221682 |
79 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4221681 rs769583066 |
81 | P>A | No |
ClinGen ExAC gnomAD |
|
| COSM746991 | 81 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 81 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1089427 | 82 | A>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs981377006 CA157453892 |
82 | A>T | No |
ClinGen Ensembl |
|
| COSM4391276 | 83 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 84 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1584884777 CA367275773 |
85 | A>T | No |
ClinGen Ensembl |
|
|
CA367275762 rs1467686691 |
86 | Q>H | No |
ClinGen gnomAD |
|
|
CA157453889 rs973841368 |
86 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 87 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375426472 CA367275742 |
89 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 90 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296323394 CA367275727 COSM3923577 |
91 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
rs1562561832 CA367275721 |
92 | I>M | No |
ClinGen Ensembl |
|
|
rs971451065 CA157453886 |
92 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4221660 rs771060425 |
92 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4221659 rs189550980 |
94 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4221657 rs772235613 COSM2151685 |
95 | S>L | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
rs778018495 CA4221658 |
95 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA157453880 rs146968227 COSM109206 |
99 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1421455055 CA367275674 |
99 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 100 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1584884681 CA367275661 |
101 | L>R | No |
ClinGen Ensembl |
|
|
CA4221654 rs755142398 |
103 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 103 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750882508 CA4221650 |
105 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs756664773 CA4221651 |
105 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1584884655 CA367275633 |
106 | D>A | No |
ClinGen Ensembl |
|
|
CA4221649 rs763625702 |
108 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs763625702 CA157453872 |
108 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs762458730 CA4221648 |
109 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA367275609 rs1304822480 |
110 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs765001976 CA4221646 COSM1089426 |
112 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4221647 COSM244243 rs752309599 |
112 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1584884610 CA367275591 |
113 | D>G | No |
ClinGen Ensembl |
|
|
rs759109409 CA4221645 |
114 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776611291 CA4221644 |
115 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4221642 rs760723963 |
117 | A>V | No |
ClinGen ExAC |
|
|
rs773213406 CA4221641 |
121 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772054667 CA4221640 |
121 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182124804 CA367275535 |
122 | N>H | No |
ClinGen gnomAD |
|
|
rs1444333487 CA367275531 |
122 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4221638 rs147496204 |
123 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748317146 CA4221639 |
123 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA367275524 COSM186904 rs1350423493 |
124 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| COSM1450572 | 125 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1673117 rs1476363678 CA367275515 |
125 | G>S | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
|
CA4221637 rs768961352 |
128 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 128 | L>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215852443 CA367275481 |
130 | T>M | No |
ClinGen gnomAD |
|
| COSM3880836 | 130 | T>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA367275473 rs1417409134 |
131 | Q>H | No |
ClinGen TOPMed |
|
| COSM746992 | 132 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 133 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1293745721 CA367275463 |
133 | V>M | No |
ClinGen gnomAD |
|
| COSM1089425 | 135 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1043529201 CA157453847 |
136 | G>S | No |
ClinGen TOPMed |
|
|
rs1584884431 CA367275430 |
138 | E>K | No |
ClinGen Ensembl |
|
| COSM1450571 | 139 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1089424 | 139 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4221604 rs767193273 |
149 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 150 | C>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 153 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351408201 CA367275024 |
154 | M>L | No |
ClinGen gnomAD |
|
|
CA367275010 rs1411395110 |
156 | S>A | No |
ClinGen TOPMed |
|
| COSM3880835 | 157 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4221581 rs762877369 COSM1450570 |
160 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs940834262 CA157447758 |
163 | V>A | No |
ClinGen TOPMed gnomAD |
|
| COSM1313065 | 163 | V>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs759779027 CA4221578 |
163 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs771335798 CA4221576 |
170 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 170 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754382932 CA157447754 |
170 | I>V | No |
ClinGen Ensembl |
|
|
rs1228319930 CA367274913 |
171 | V>L | No |
ClinGen TOPMed |
|
|
CA367274914 rs1228319930 |
171 | V>M | No |
ClinGen TOPMed |
|
|
rs1290175929 CA367274887 |
174 | D>E | No |
ClinGen TOPMed |
|
|
rs772744911 CA4221573 |
175 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM214118 CA4221572 rs748641624 |
175 | T>I | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs772744911 CA4221574 |
175 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1089423 rs1447676557 CA367274872 |
177 | S>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
CA4221569 rs201643830 |
178 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780651615 CA4221568 COSM3229031 |
179 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
rs751378609 CA4221566 |
183 | K>R | No |
ClinGen ExAC gnomAD |
|
|
COSM244242 rs1161787913 CA367274810 |
185 | A>T | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA4221544 rs748088545 |
186 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 186 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4221543 rs778875567 |
191 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1322638920 CA367274767 |
191 | S>T | No |
ClinGen gnomAD |
|
|
CA367274759 rs1563087905 |
192 | A>V | No |
ClinGen Ensembl |
|
|
rs754937014 CA4221542 |
193 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs753901834 CA4221541 |
194 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 194 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1456903997 CA367274738 |
195 | I>S | No |
ClinGen TOPMed |
|
|
CA4221540 rs200982685 |
196 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202278832 CA367274708 COSM6047675 |
200 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
CA157445742 rs751048183 |
200 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA367274674 rs1584834642 |
206 | E>K | No |
ClinGen Ensembl |
|
|
rs903347237 CA157445739 |
206 | E>V | No |
ClinGen Ensembl |
|
|
COSM3638494 rs1205672205 CA367274662 |
207 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
CA4221536 rs367770918 |
208 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774843181 CA4221535 |
211 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA367274621 rs1220934903 |
213 | H>R | No |
ClinGen gnomAD |
|
|
CA367274624 rs1283332262 |
213 | H>Y | No |
ClinGen gnomAD |
|
|
CA4221534 rs764767006 |
214 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367274618 rs1365426162 |
214 | D>N | No |
ClinGen gnomAD |
|
|
CA367274601 rs1402144750 |
216 | Y>C | No |
ClinGen gnomAD |
|
|
CA367274605 rs1442705126 |
216 | Y>N | No |
ClinGen gnomAD |
|
|
rs1329620194 CA367274595 |
217 | Q>* | No |
ClinGen gnomAD |
|
| COSM746996 | 220 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4221532 rs776057144 COSM3880834 |
220 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| COSM97844 | 221 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4221530 rs530807698 |
221 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1267317650 CA367274535 |
226 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA367274518 rs1275727465 |
228 | L>H | No |
ClinGen gnomAD |
|
|
rs750244677 CA157445719 |
230 | P>L | No |
ClinGen Ensembl |
|
|
rs894532676 CA157445721 |
230 | P>S | No |
ClinGen Ensembl |
|
|
rs936973308 CA157445717 |
231 | H>D | No |
ClinGen TOPMed |
|
| COSM1450569 | 232 | L>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3923576 | 234 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA367277429 rs1297394471 |
235 | S>P | No |
ClinGen TOPMed |
|
|
COSM3832732 CA4221514 rs537643098 CA4221515 |
238 | E>D | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD NCI-TCGA Cosmic NCI-TCGA |
| TCGA novel | 242 | Y>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1673116 | 243 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4221513 rs760286433 |
244 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1236356525 CA367277357 |
245 | A>V | No |
ClinGen gnomAD |
|
| COSM280774 | 247 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4221511 rs771749550 |
248 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs761429850 CA367277331 |
249 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761429850 CA4221510 |
249 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768456457 CA4221508 |
255 | P>L | No |
ClinGen ExAC gnomAD |
|
| COSM3638493 | 255 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3832731 | 257 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs749186791 CA4221507 |
257 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM4853978 | 257 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3923574 | 258 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs764039144 CA157442357 |
260 | Q>R | No |
ClinGen TOPMed |
|
| COSM3923573 | 261 | E>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1456604555 CA367277232 |
262 | M>L | No |
ClinGen gnomAD |
|
|
rs1300048209 CA367277223 |
263 | A>S | No |
ClinGen TOPMed |
|
|
COSM3832730 CA4221478 rs753142024 |
263 | A>V | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 268 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4221476 rs755495695 |
268 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA4221475 rs754300674 |
268 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4221474 rs374032705 |
270 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367277164 rs1311907939 |
272 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA367277161 rs1448608892 |
272 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA367277155 rs1214032753 |
273 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 273 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330221851 CA367277151 |
274 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 276 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756664630 CA4221437 |
278 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs888621763 CA367277095 |
280 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1228592270 CA367277099 COSM1450568 |
280 | I>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs746313086 CA4221436 COSM2151669 |
281 | R>Q | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1359012592 CA367277090 |
282 | A>T | No |
ClinGen gnomAD |
|
|
rs540991176 COSM3698344 CA4221434 |
284 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA367277075 rs1232187839 COSM1450567 |
284 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA367277069 rs1455058106 |
285 | A>D | No |
ClinGen gnomAD |
|
|
rs1398033032 CA367277072 |
285 | A>T | No |
ClinGen gnomAD |
|
|
CA367277058 rs1359734998 |
287 | N>D | No |
ClinGen gnomAD |
|
|
CA367277048 COSM6177945 COSM1549922 rs1323952793 |
288 | N>S | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
CA4221433 rs752410250 |
290 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA367277027 rs1463816722 |
291 | A>T | No |
ClinGen TOPMed |
|
|
COSM453017 CA4221432 rs778770532 |
291 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 292 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1089418 | 296 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4221428 rs760695466 |
298 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224247611 CA367276961 |
301 | T>A | No |
ClinGen gnomAD |
|
|
rs1051645750 CA157441324 |
301 | T>I | No |
ClinGen Ensembl |
|
|
rs767646761 CA4221426 |
304 | L>F | No |
ClinGen ExAC gnomAD |
|
| COSM3431578 | 305 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs774408984 CA4221424 |
306 | E>K | No |
ClinGen ExAC gnomAD |
|
|
COSM1673114 rs774408984 CA367276931 |
306 | E>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4221423 rs768905962 |
307 | D>G | No |
ClinGen ExAC gnomAD |
|
| COSM3638490 | 308 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1313064 | 309 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4221419 rs746393646 |
309 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs770016095 CA4221420 |
309 | M>V | No |
ClinGen ExAC |
|
|
CA367276892 rs1317339073 |
311 | T>I | No |
ClinGen TOPMed |
|
| COSM6110333 | 311 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1251120 CA157441322 rs767694297 |
312 | K>E | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA367276884 rs1228838629 |
312 | K>N | No |
ClinGen TOPMed |
|
|
CA157441321 rs267601504 |
313 | M>I | No |
ClinGen Ensembl |
|
|
rs1319820377 CA367276868 |
314 | D>E | No |
ClinGen TOPMed |
|
|
CA367276874 rs1289004892 |
314 | D>N | No |
ClinGen TOPMed |
|
|
CA367276846 rs781496887 |
317 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA367276842 rs1323188549 |
318 | Q>K | No |
ClinGen gnomAD |
|
| COSM3880833 | 318 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA367276793 rs1159640337 |
323 | I>V | No |
ClinGen gnomAD |
|
|
rs879142842 CA157441143 |
324 | I>M | No |
ClinGen Ensembl |
|
|
COSM1173315 rs1239652059 CA367276758 |
328 | R>* | oesophagus endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| COSM2148922 | 328 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1174488092 COSM3229019 CA367276757 |
328 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
rs1189513739 CA367276752 |
329 | R>K | No |
ClinGen TOPMed |
|
|
rs765065086 CA157441141 |
331 | A>T | No |
ClinGen Ensembl |
|
|
CA367276729 rs1480048572 |
332 | F>L | No |
ClinGen gnomAD |
|
|
CA157441140 rs905018511 |
334 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 334 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 335 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4221395 rs747466144 |
342 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA367276633 rs1307414141 |
345 | M>I | No |
ClinGen gnomAD |
|
|
rs1355530115 CA367276637 |
345 | M>T | No |
ClinGen gnomAD |
|
|
CA367276639 rs1240644449 |
345 | M>V | No |
ClinGen gnomAD |
|
|
rs372103309 CA4221394 |
348 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4221393 rs144700377 |
348 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| COSM1251122 | 349 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA367276599 rs1304643674 |
350 | S>F | No |
ClinGen gnomAD |
|
| COSM5091516 | 351 | M>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs755785851 CA4221390 |
351 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4221389 rs745689979 |
353 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4221388 rs781018207 |
353 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA367276582 rs745689979 |
353 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1450566 CA4221386 rs759455617 |
354 | R>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
rs776563605 COSM1089417 CA157441137 |
354 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
|
CA367276570 rs1418135180 |
355 | D>V | No |
ClinGen gnomAD |
|
|
rs764165681 CA4221385 |
356 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs752764112 CA4221383 |
359 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs142757078 CA157441136 COSM107777 |
361 | F>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| VAR_065824 | 362 | I>S | No | UniProt | |
|
CA4221331 rs770633586 |
363 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 366 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA157426519 rs749757861 |
366 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325619997 CA367275279 |
366 | N>S | No |
ClinGen gnomAD |
|
|
rs1325619997 CA367275278 |
366 | N>T | No |
ClinGen gnomAD |
|
|
COSM4908091 COSM3374622 |
367 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM6177946 COSM6177947 |
367 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4221328 rs558043738 |
368 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA367275263 rs1392445899 |
369 | M>V | No |
ClinGen gnomAD |
|
|
COSM4782031 rs748062510 CA4221327 COSM1089414 |
372 | T>M | Variant assessed as Somatic; MODERATE impact. endometrium central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
CA367275221 rs1210964312 |
374 | T>I | No |
ClinGen TOPMed |
|
|
CA367275223 rs1210964312 |
374 | T>N | No |
ClinGen TOPMed |
|
|
CA367275213 rs1242758544 |
376 | P>A | No |
ClinGen TOPMed |
|
|
CA4221323 rs780269082 |
379 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs749453235 CA4221324 |
379 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA367275168 rs1199197029 |
383 | N>D | No |
ClinGen gnomAD |
|
|
rs1250678469 CA367275143 |
386 | Y>C | No |
ClinGen gnomAD |
|
|
CA367275139 rs1190772481 |
387 | F>L | No |
ClinGen TOPMed |
|
|
COSM1089413 COSM4867817 |
388 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM6177949 COSM6177948 |
391 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4221319 rs757591882 |
392 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3880831 COSM4907861 |
392 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1212708870 CA367275097 |
392 | Q>R | No |
ClinGen gnomAD |
|
|
rs764699479 CA4221317 |
396 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4221318 rs751847028 |
396 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA367275063 rs1238602128 |
397 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA367275066 COSM293187 rs1475312411 |
397 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 398 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4221296 rs753132165 |
398 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 400 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172703416 CA367274451 |
400 | L>V | No |
ClinGen gnomAD |
|
|
rs1584637165 CA367274445 |
401 | E>Q | No |
ClinGen Ensembl |
|
|
rs1022753634 CA157416952 |
401 | E>V | No |
ClinGen Ensembl |
|
| COSM1284721 | 403 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4819195 COSM4819194 |
405 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs765901043 CA4221295 |
407 | D>E | No |
ClinGen ExAC gnomAD |
|
|
COSM4815460 COSM3832729 |
407 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 409 | H>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868320961 CA157416948 COSM1673113 |
410 | E>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs767270406 CA4221292 |
412 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4221293 rs190136958 |
412 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM4906448 COSM3880830 |
414 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4221290 rs774211436 |
415 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs137862825 CA4221289 |
415 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367274341 rs1223317694 |
416 | S>G | No |
ClinGen gnomAD |
|
|
CA4221287 rs775520018 |
419 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1375286492 CA367274297 |
422 | K>R | No |
ClinGen gnomAD |
|
|
CA4221284 rs776844359 |
427 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346633454 CA367274254 |
428 | L>S | No |
ClinGen gnomAD |
|
|
CA4221283 rs568912450 |
429 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1089411 COSM4864692 |
431 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA367274231 rs1190053217 |
432 | E>K | No |
ClinGen gnomAD |
|
|
rs1256631098 CA367274217 |
433 | L>F | No |
ClinGen gnomAD |
|
|
rs1485384662 CA367274199 |
434 | P>L | No |
ClinGen TOPMed |
|
|
COSM601175 rs1194152989 CA367274214 COSM4906392 |
434 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
COSM4908096 COSM3995574 |
435 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4221254 rs749730503 |
437 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367274170 rs1297491267 |
438 | C>F | No |
ClinGen gnomAD |
|
|
rs961057944 CA157388776 |
440 | D>N | No |
ClinGen TOPMed |
|
|
rs756673995 CA4221252 |
441 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs369134773 CA4221250 |
442 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4221248 rs752597016 |
443 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4221249 rs758117955 |
443 | P>S | No |
ClinGen ExAC gnomAD |
|
|
COSM601176 rs149093668 CA4221246 |
444 | M>I | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM320104 CA157388775 rs946481834 |
448 | H>Q | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs766499829 CA4221244 |
449 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766499829 CA4221245 |
449 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346714529 CA367274089 |
450 | R>K | No |
ClinGen gnomAD |
|
|
rs915387525 CA157388774 |
451 | S>F | No |
ClinGen TOPMed |
|
|
CA367274083 rs1279731102 |
451 | S>T | No |
ClinGen gnomAD |
|
|
rs1333457205 CA367274071 |
453 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 453 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4221242 rs566296562 |
454 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4221240 rs761966152 |
455 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4221239 rs147899542 |
457 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| COSM1698572 | 461 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA367273990 rs1198972331 |
464 | N>S | No |
ClinGen TOPMed |
|
|
rs749825864 CA4221237 |
467 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs998794281 CA157388773 |
471 | R>K | No |
ClinGen Ensembl |
|
|
CA367273934 CA367273933 rs1451768906 |
471 | R>S | No |
ClinGen gnomAD |
|
|
rs200212685 CA4221236 |
473 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1476483318 CA367273884 |
478 | N>K | No |
ClinGen gnomAD |
|
|
rs1189345389 CA367273887 |
478 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1189345389 CA367273888 |
478 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM4907502 COSM3880828 |
480 | V>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1436867509 CA367273862 |
480 | V>L | No |
ClinGen TOPMed |
|
|
rs765537908 CA4221183 |
481 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1202319055 CA367273843 |
482 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4221182 rs759991890 |
483 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4221181 rs754220393 |
487 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 488 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs575519644 CA4221179 |
489 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA367273781 rs1235362283 |
491 | A>V | No |
ClinGen gnomAD |
|
|
rs1166249223 CA367273775 |
492 | L>R | No |
ClinGen TOPMed |
|
|
rs372182988 CA4221176 |
493 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372182988 CA367273771 |
493 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372182988 CA4221175 |
493 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367273772 rs1417840288 |
493 | T>S | No |
ClinGen TOPMed |
|
|
CA4221174 rs769301419 |
494 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1278359842 CA367273766 |
494 | T>I | No |
ClinGen gnomAD |
|
|
CA367273769 rs769301419 |
494 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 495 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs11766187 CA157360906 |
496 | P>L | No |
ClinGen Ensembl |
|
|
CA367273748 rs956711929 |
497 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs956711929 COSM4906549 COSM3880827 CA157360904 |
497 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
rs1326559563 CA367273655 |
510 | S>N | No |
ClinGen TOPMed |
|
|
CA4221170 rs746880873 |
512 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367273643 rs746880873 |
512 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367273607 rs1584327152 |
517 | I>T | No |
ClinGen Ensembl |
|
|
CA157360895 COSM4814729 rs868556780 COSM1569005 |
518 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine stomach breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 518 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367273592 rs1219863756 |
519 | Q>H | No |
ClinGen TOPMed |
|
|
CA367273591 rs1243728572 |
520 | S>T | No |
ClinGen gnomAD |
|
|
CA4221166 rs779233099 |
521 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755241179 CA4221165 |
524 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1258087833 CA367273539 |
527 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA157360889 rs953621268 |
529 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA367273510 rs1484554445 |
531 | R>C | No |
ClinGen gnomAD |
|
|
CA4221164 rs754271181 COSM1251127 |
531 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA367273506 rs754271181 |
531 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1029574627 CA367273501 COSM367449 |
532 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1029574627 CA157360883 |
532 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4221161 rs750912430 |
533 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367273473 rs1327911146 |
535 | E>Q | No |
ClinGen gnomAD |
|
|
CA4221139 rs750724101 |
538 | E>G | No |
ClinGen ExAC gnomAD |
|
|
COSM4892230 COSM3638487 |
538 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA367273437 rs1170923887 |
540 | I>V | No |
ClinGen gnomAD |
|
|
rs1287311866 CA367273426 |
541 | Q>R | No |
ClinGen TOPMed |
|
|
COSM3880826 COSM4680788 rs1209023342 CA367273348 |
552 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
COSM6110335 COSM6110334 |
552 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1393199298 CA367273336 |
554 | N>S | No |
ClinGen TOPMed |
|
|
rs776394175 CA157359434 |
555 | R>C | No |
ClinGen TOPMed |
|
|
CA4221136 rs752263173 |
555 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4221137 rs752263173 |
555 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 565 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4221134 rs759216782 |
565 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4221135 rs568773042 |
565 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4221133 rs776212846 |
566 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352299028 CA367273249 |
567 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs760500422 CA4221131 |
568 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA367273242 rs1236299944 |
569 | R>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 569 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367273236 rs1266728719 |
570 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 575 | W>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1274388140 CA367273159 |
578 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4221121 rs781351975 COSM3638486 COSM4852582 |
580 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
rs751970344 CA4221119 |
583 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM4814339 COSM3832728 |
584 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs147389821 CA4221118 |
585 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA157358097 rs1009364434 |
589 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 592 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA157358096 rs892386281 |
593 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs557136502 CA157358095 |
594 | S>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA157358094 rs557136502 |
594 | S>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA367273047 rs1377550262 |
595 | P>R | No |
ClinGen gnomAD |
|
|
rs760228103 CA4221114 |
597 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA367273024 rs1318689741 |
599 | V>M | No |
ClinGen Ensembl |
|
|
rs767179282 CA367273017 |
600 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767179282 CA4221112 |
600 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 601 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4905682 COSM3638485 CA4221110 rs774208030 |
602 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
rs1486846711 COSM136595 CA367272993 |
603 | S>F | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
CA367272995 rs1486846711 |
603 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779829138 CA157358092 |
605 | Q>R | No |
ClinGen gnomAD |
|
|
COSM3638483 COSM4894569 |
606 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3880824 COSM4907616 |
608 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4221093 rs761554084 |
609 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4221091 COSM1450563 COSM4784196 rs751395548 |
609 | P>L | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4221092 rs761554084 |
609 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 610 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367272905 rs1282217627 |
615 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 616 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4680785 rs762928031 COSM1450562 CA4221089 |
616 | V>M | kidney Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 617 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775714420 COSM1450561 CA4221088 COSM4784420 |
618 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM4904154 COSM3638482 |
619 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA367272869 rs1387994328 |
621 | D>N | No |
ClinGen gnomAD |
|
|
rs759826224 CA4221086 |
624 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1463487577 CA367272845 |
624 | H>Y | No |
ClinGen gnomAD |
|
|
COSM3638481 COSM4898066 |
625 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA367272836 rs1475919781 |
625 | M>K | No |
ClinGen gnomAD |
|
|
CA4221085 rs776767360 |
625 | M>V | No |
ClinGen ExAC gnomAD |
|
|
COSM4837573 COSM4837574 |
627 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs771149584 CA4221084 |
627 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs996320925 CA157357297 |
629 | G>D | No |
ClinGen Ensembl |
|
|
CA4221083 rs747396168 COSM4945921 COSM1569006 |
630 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4221082 rs370693225 |
630 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367272798 rs1213700004 |
631 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
COSM6177950 COSM6177951 |
633 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4221079 rs779564426 |
634 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM4868064 COSM1089410 |
636 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1274833312 CA367272714 |
641 | A>T | No |
ClinGen gnomAD |
|
|
rs745428862 CA4221059 |
644 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs745428862 CA157356292 |
644 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1369614587 CA367272659 |
649 | N>D | No |
ClinGen gnomAD |
|
|
rs1280353570 CA367272656 |
649 | N>S | No |
ClinGen TOPMed |
|
|
rs1173839590 CA367272641 |
651 | Q>R | No |
ClinGen gnomAD |
|
|
rs1422431283 CA367272632 |
652 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 654 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4752891 COSM4752890 |
654 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1171425281 CA367272615 |
655 | I>L | No |
ClinGen gnomAD |
|
|
rs1171425281 CA367272614 |
655 | I>V | No |
ClinGen gnomAD |
|
|
CA157356291 rs1054213654 |
657 | P>S | No |
ClinGen TOPMed |
|
|
CA4221054 rs141508815 |
658 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1179782413 CA367272586 |
659 | K>R | No |
ClinGen gnomAD |
|
|
CA4221053 rs367749425 |
660 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367272537 rs1435243015 |
664 | I>V | No |
ClinGen gnomAD |
|
|
CA4221028 rs767784847 |
666 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA157355644 rs984811545 |
666 | T>S | No |
ClinGen Ensembl |
|
|
CA4221026 rs774585018 |
667 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM4914932 COSM4914933 |
667 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs757295660 CA4221024 |
671 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4221022 rs770393657 |
672 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1246279696 CA367272477 |
674 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs771861381 CA4221019 |
675 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs866035568 CA157355643 |
677 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
COSM1450560 COSM4948725 |
677 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA157355642 rs1054649854 CA367272442 |
678 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1328783502 CA367272443 |
678 | M>R | No |
ClinGen TOPMed |
|
| TCGA novel | 679 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367272430 rs1228669765 |
680 | D>A | No |
ClinGen gnomAD |
|
|
CA4221016 rs768548471 |
680 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4221014 rs182459066 COSM1549926 |
682 | T>M | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 683 | R>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201616410 CA4221012 |
683 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368274447 CA367272415 |
683 | R>W | No |
ClinGen gnomAD |
|
|
CA367272379 rs1584254363 |
688 | T>N | No |
ClinGen Ensembl |
|
|
CA4221010 rs757503801 |
692 | M>L | No |
ClinGen ExAC TOPMed |
|
|
CA367272342 rs1562772705 |
693 | E>D | No |
ClinGen Ensembl |
|
|
CA4221009 rs751754505 |
697 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 699 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM6110339 COSM6110338 |
701 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 702 | E>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752998607 CA4221006 |
705 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs143442077 CA4221008 |
705 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765898655 CA4221005 |
706 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs918674508 COSM402869 CA157355637 |
709 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs918674508 CA367272242 |
709 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA367272232 rs1339362141 |
710 | P>L | No |
ClinGen Ensembl |
|
|
CA367272226 rs1388473858 |
711 | P>L | No |
ClinGen TOPMed |
|
|
CA367272220 rs1584254241 |
712 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 723 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs962203529 CA157355634 |
723 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1562772591 CA367272136 |
724 | Y>C | No |
ClinGen Ensembl |
|
|
CA367272125 rs1227082748 |
725 | D>E | No |
ClinGen gnomAD |
|
|
CA367272118 rs1312258436 |
726 | C>Y | No |
ClinGen gnomAD |
|
|
rs1358707431 CA367272113 |
727 | N>Y | No |
ClinGen gnomAD |
|
|
rs761208793 CA4221001 |
728 | N>L | No |
ClinGen ExAC gnomAD |
No associated diseases with Q92556
1 regional properties for Q92556
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Basic-leucine zipper domain | 269 - 334 | IPR004827 |
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR12771 | ENGULFMENT AND CELL MOTILITY |
| PANTHER Subfamily | PTHR12771:SF23 | ENGULFMENT AND CELL MOTILITY PROTEIN 1 |
| PANTHER Protein Class | scaffold/adaptor protein | |
| PANTHER Pathway Category |
Integrin signalling pathway ELMO |
|
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| guanyl-nucleotide exchange factor complex | A protein complex that stimulates the exchange of guanyl nucleotides associated with a GTPase. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| SH3 domain binding | Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| actin filament organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking. |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| cell motility | Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. |
| phagocytosis, engulfment | The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms |
| Rac protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Rac family of proteins switching to a GTP-bound active state. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A4FUD6 | ELMO2 | Engulfment and cell motility protein 2 | Bos taurus (Bovine) | SS |
| Q8IZ81 | ELMOD2 | ELMO domain-containing protein 2 | Homo sapiens (Human) | PR |
| Q96BJ8 | ELMO3 | Engulfment and cell motility protein 3 | Homo sapiens (Human) | SS |
| Q96JJ3 | ELMO2 | Engulfment and cell motility protein 2 | Homo sapiens (Human) | SS |
| Q8BHL5 | Elmo2 | Engulfment and cell motility protein 2 | Mus musculus (Mouse) | SS |
| Q8BYZ7 | Elmo3 | Engulfment and cell motility protein 3 | Mus musculus (Mouse) | SS |
| Q8BPU7 | Elmo1 | Engulfment and cell motility protein 1 | Mus musculus (Mouse) | SS |
| Q499U2 | Elmo3 | Engulfment and cell motility protein 3 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPPPADIVKV | AIEWPGAYPK | LMEIDQKKPL | SAIIKEVCDG | WSLANHEYFA | LQHADSSNFY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ITEKNRNEIK | NGTILRLTTS | PAQNAQQLHE | RIQSSSMDAK | LEALKDLASL | SRDVTFAQEF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| INLDGISLLT | QMVESGTERY | QKLQKIMKPC | FGDMLSFTLT | AFVELMDHGI | VSWDTFSVAF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IKKIASFVNK | SAIDISILQR | SLAILESMVL | NSHDLYQKVA | QEITIGQLIP | HLQGSDQEIQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TYTIAVINAL | FLKAPDERRQ | EMANILAQKQ | LRSIILTHVI | RAQRAINNEM | AHQLYVLQVL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TFNLLEDRMM | TKMDPQDQAQ | RDIIFELRRI | AFDAESEPNN | SSGSMEKRKS | MYTRDYKKLG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FINHVNPAMD | FTQTPPGMLA | LDNMLYFAKH | HQDAYIRIVL | ENSSREDKHE | CPFGRSSIEL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TKMLCEILKV | GELPSETCND | FHPMFFTHDR | SFEEFFCICI | QLLNKTWKEM | RATSEDFNKV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MQVVKEQVMR | ALTTKPSSLD | QFKSKLQNLS | YTEILKIRQS | ERMNQEDFQS | RPILELKEKI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QPEILELIKQ | QRLNRLVEGT | CFRKLNARRR | QDKFWYCRLS | PNHKVLHYGD | LEESPQGEVP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HDSLQDKLPV | ADIKAVVTGK | DCPHMKEKGA | LKQNKEVLEL | AFSILYDSNC | QLNFIAPDKH |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EYCIWTDGLN | ALLGKDMMSD | LTRNDLDTLL | SMEIKLRLLD | LENIQIPDAP | PPIPKEPSNY |
| DFVYDCN |