P50548
PR
Gene name |
ERF |
Protein name |
ETS domain-containing transcription factor ERF |
Names |
Ets2 repressor factor, PE-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2077 |
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
3 structures for P50548
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7JSA | X-ray | 285 A | J | 22-140 | PDB |
| 7JSL | X-ray | 451 A | E/H/J/L | 22-140 | PDB |
| AF-P50548-F1 | Predicted | AlphaFoldDB |
474 variants for P50548
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000203306 rs864321681 |
1 | M>V | Craniosynostosis 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2036427390 RCV001332776 |
14 | W>* | Craniosynostosis 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2036426238 RCV001317285 |
37 | L>P | TWIST1-related craniosynostosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2036425705 RCV001205291 |
48 | W>* | TWIST1-related craniosynostosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587777009 CA249532 RCV000049339 VAR_070098 |
65 | R>Q | Craniosynostosis 4 (crs4) Craniosynostosis 4 CRS4 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000653726 CA9471483 rs756869919 |
70 | R>C | TWIST1-related craniosynostosis Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA406114942 rs1568472771 RCV000706049 |
75 | Q>* | TWIST1-related craniosynostosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1599824091 RCV000984106 CA406114918 |
76 | M>I | Multiple myeloma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406114805 RCV001266171 rs758855122 RCV002252352 |
83 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001553132 RCV000501328 rs766762597 RCV003126771 CA406114810 |
83 | R>W | Craniosynostosis 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587777008 RCV000305113 VAR_070099 CA249531 RCV001060076 RCV000049338 |
86 | R>C | TWIST1-related craniosynostosis Variant assessed as Somatic; impact. Craniosynostosis 4 (crs4) Craniosynostosis 4 CRS4 [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA9471475 RCV001217172 rs765295141 |
86 | R>H | TWIST1-related craniosynostosis Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002518789 CA10602507 RCV000258152 VAR_078043 RCV000481720 rs886041001 |
89 | Y>C | Chitayat syndrome Inborn genetic diseases CHYTS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1599823350 CA406114639 RCV000786998 |
96 | K>* | Craniosynostosis 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9471411 rs781452659 RCV000985266 RCV002538872 |
128 | V>G | Craniosynostosis syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2036410199 RCV001238393 |
143 | R>missing | TWIST1-related craniosynostosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767011693 RCV001061649 |
178 | A>P | TWIST1-related craniosynostosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000049336 RCV000534904 CA249528 rs587777006 RCV000763434 |
183 | R>* | TWIST1-related craniosynostosis Craniosynostosis 4 (crs4) Craniosynostosis 4 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555750816 RCV000653728 RCV001254074 |
188 | D>* | TWIST1-related craniosynostosis Craniosynostosis 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001265995 rs1555750795 CA406111368 RCV000547799 |
207 | R>* | TWIST1-related craniosynostosis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000950889 CA9471354 rs200767779 |
220 | P>H | TWIST1-related craniosynostosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2036401878 TCGA novel RCV002254342 RCV001266260 |
233 | R>* | Variant assessed as Somatic; impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000528500 rs1555750741 |
245 | L>missing | TWIST1-related craniosynostosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2036399893 RCV001222060 |
250 | V>L | TWIST1-related craniosynostosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555750721 RCV000624075 |
262 | P>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002547081 CA9471322 RCV001347560 rs756557668 |
275 | L>P | TWIST1-related craniosynostosis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001420279 RCV000794846 rs587777007 RCV000049337 RCV002281897 RCV001267114 |
299 | G>missing | TWIST1-related craniosynostosis Inborn genetic diseases Craniosynostosis 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001332775 rs1395870549 |
344 | R>G | Craniosynostosis 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000870527 rs144812092 RCV002539079 CA9471274 |
349 | P>L | TWIST1-related craniosynostosis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001254631 rs2036390617 |
350 | L>missing | Craniosynostosis 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9471268 rs149405304 RCV001412573 |
353 | M>V | TWIST1-related craniosynostosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1064796715 RCV000483897 RCV001371425 |
358 | P>missing | TWIST1-related craniosynostosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000533809 RCV001555365 rs199960550 |
373 | S>missing | TWIST1-related craniosynostosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001568871 CA9471232 RCV000870883 rs111793182 |
398 | G>S | TWIST1-related craniosynostosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000485362 rs1064794325 RCV001865446 RCV001263207 RCV001374966 |
401 | K>missing | TWIST1-related craniosynostosis Neurodevelopmental disorder Craniosynostosis 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9471230 RCV001211073 rs753010203 |
401 | K>E | TWIST1-related craniosynostosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000653727 rs759202471 |
415 | A>missing | TWIST1-related craniosynostosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000546427 CA9471217 rs139842507 RCV001571681 |
415 | A>V | TWIST1-related craniosynostosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9471206 rs533363033 RCV000983822 RCV002549607 |
421 | P>L | TWIST1-related craniosynostosis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs587777010 RCV000049340 CA249533 |
424 | Q>* | Craniosynostosis 4 (crs4) Craniosynostosis 4 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000985270 CA9471196 rs749808726 COSM1205630 |
434 | E>K | large_intestine Craniosynostosis syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
COSM997289 rs762382429 RCV001239113 CA9471159 |
493 | R>H | TWIST1-related craniosynostosis Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs764412749 RCV000735402 RCV002536539 CA9471122 |
546 | R>* | Atrial septal defect Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs375393145 CA9471525 |
4 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406118647 rs375393145 |
4 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9471524 rs201571647 |
7 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
TCGA novel rs1425355007 CA406116150 |
9 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA406116146 rs1425355007 |
9 | F>V | No |
ClinGen gnomAD |
|
|
rs375582175 CA9471503 |
11 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1381524812 CA406116082 |
12 | P>L | No |
ClinGen TOPMed |
|
|
CA406116090 rs1487817944 |
12 | P>S | No |
ClinGen gnomAD |
|
|
CA308638798 rs898918186 |
15 | A>T | No |
ClinGen Ensembl |
|
|
CA406115978 rs1356677147 |
16 | Y>C | No |
ClinGen gnomAD |
|
|
CA406115937 rs1242031283 |
18 | P>A | No |
ClinGen gnomAD |
|
|
CA308638795 rs1037421856 |
18 | P>L | No |
ClinGen Ensembl |
|
|
rs1568472898 CA406115751 |
27 | I>M | No |
ClinGen Ensembl |
|
|
CA406115762 rs1399939083 |
27 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 31 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9471497 rs760016604 |
31 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1326015747 CA406115672 |
31 | H>Y | No |
ClinGen gnomAD |
|
|
CA308638776 rs111300456 |
36 | L>P | No |
ClinGen Ensembl |
|
|
CA9471494 rs763456687 |
38 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406115545 rs1568472872 |
38 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1234730500 CA406115531 |
39 | K>E | No |
ClinGen TOPMed |
|
|
CA406115456 rs1599824293 |
42 | Y>D | No |
ClinGen Ensembl |
|
|
CA308638748 COSM1712399 rs914128913 |
45 | V>I | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs769908132 CA9471492 |
46 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1200813831 CA406115344 |
47 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 54 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 54 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768322408 CA9471489 |
56 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1218549626 CA406115156 |
60 | P>A | No |
ClinGen gnomAD |
|
|
rs587777009 CA406115071 |
65 | R>L | Craniosynostosis 4 (crs4) [Ensembl] | No |
ClinGen gnomAD |
|
rs1479656985 CA406115074 |
65 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9471487 rs141468833 |
67 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA406115021 rs1599824171 |
69 | V>G | No |
ClinGen Ensembl |
|
|
CA9471485 rs745819984 COSM997297 |
69 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9471482 COSM1394073 rs370521331 |
70 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1599824140 CA406114986 |
72 | C>R | No |
ClinGen Ensembl |
|
|
rs758062764 CA308638672 |
72 | C>Y | No |
ClinGen Ensembl |
|
|
rs777544599 CA9471481 |
73 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA406114939 rs1599824102 |
75 | Q>P | No |
ClinGen Ensembl |
|
|
rs1174086151 CA406114874 |
79 | D>N | No |
ClinGen gnomAD |
|
|
rs758855122 CA9471477 |
83 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1052030393 CA308638336 |
88 | Y>F | No |
ClinGen Ensembl |
|
|
rs774305612 CA9471443 |
92 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1381343253 COSM997295 CA406114663 |
92 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 93 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406114646 rs1599823366 |
95 | H>R | No |
ClinGen Ensembl |
|
|
rs904084126 CA308638316 |
95 | H>Y | No |
ClinGen TOPMed |
|
|
rs79269780 CA308638310 |
97 | T>S | No |
ClinGen Ensembl |
|
| TCGA novel | 98 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769239795 CA9471439 |
101 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9471438 rs747830281 |
104 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1568472405 CA406114512 |
105 | K>R | No |
ClinGen Ensembl |
|
|
CA406114477 rs1360969996 |
107 | N>S | No |
ClinGen gnomAD |
|
|
rs780879505 CA406114437 CA9471437 |
109 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 116 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458275302 CA406114286 |
117 | P>R | No |
ClinGen gnomAD |
|
|
rs746165064 CA9471435 |
118 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256078218 CA406114260 |
119 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA308638272 rs1033586611 |
119 | I>M | No |
ClinGen TOPMed |
|
|
rs1256078218 CA406114258 |
119 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9471433 rs757730703 |
121 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA9471434 rs779276597 |
121 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA406114047 rs778205341 |
126 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778205341 CA9471414 |
126 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151275041 CA9471413 |
127 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1294545237 CA406114017 |
128 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1053408488 CA308638180 |
130 | Q>P | No |
ClinGen TOPMed |
|
|
rs933816378 CA308638177 |
132 | A>P | No |
ClinGen Ensembl |
|
|
rs1568472223 RCV000728882 |
133 | P>missing | No |
ClinVar dbSNP |
|
|
CA308638158 rs932312576 |
134 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA406113865 rs1304892026 |
135 | V>G | No |
ClinGen TOPMed |
|
|
CA406113855 rs1435636284 |
136 | P>S | No |
ClinGen TOPMed |
|
|
rs1599822929 CA406113849 |
137 | S>A | No |
ClinGen Ensembl |
|
|
rs761765720 CA9471404 |
137 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761765720 CA406113841 |
137 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9471401 rs760287887 |
139 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9471400 rs775069564 |
139 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA406113796 rs1240101998 |
140 | S>R | No |
ClinGen gnomAD |
|
|
rs368169058 CA9471397 |
143 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA406113690 rs1250639908 |
143 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9471398 rs368169058 |
143 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9471396 rs770389617 |
145 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1450431923 CA406113602 |
146 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 146 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755151370 CA9471393 |
148 | T>M | Variant assessed as Somatic; 4.869e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9471391 rs780078414 |
151 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1296889815 CA406113456 |
152 | V>L | No |
ClinGen gnomAD |
|
|
rs1599822767 CA406113395 |
154 | S>P | No |
ClinGen Ensembl |
|
|
CA406113393 rs1360101366 |
154 | S>Y | No |
ClinGen gnomAD |
|
|
rs1599822759 CA406113332 |
156 | T>P | No |
ClinGen Ensembl |
|
|
CA406113274 rs1382447750 |
157 | E>D | No |
ClinGen gnomAD |
|
|
rs1433054936 CA406113304 |
157 | E>K | No |
ClinGen gnomAD |
|
|
CA406113262 rs1599822731 |
158 | D>A | No |
ClinGen Ensembl |
|
|
CA406113266 rs1179519071 |
158 | D>N | No |
ClinGen gnomAD |
|
|
CA9471389 rs527604489 |
159 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9471388 rs765102149 |
160 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1362941547 CA406113179 |
162 | P>L | No |
ClinGen gnomAD |
|
|
rs1179195230 CA406113121 |
164 | A>V | No |
ClinGen gnomAD |
|
|
rs1411695119 CA406113044 |
170 | S>F | No |
ClinGen TOPMed |
|
|
rs1251061432 CA406113030 |
171 | S>Y | No |
ClinGen gnomAD |
|
|
rs763588724 CA9471383 |
172 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406112958 rs1191881080 |
174 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406112935 rs1599822566 |
176 | V>G | No |
ClinGen Ensembl |
|
|
rs1599822542 CA406112916 |
177 | V>G | No |
ClinGen Ensembl |
|
|
rs1398305819 CA406112923 |
177 | V>L | No |
ClinGen gnomAD |
|
|
CA9471380 rs767011693 |
178 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs372369574 CA9471379 |
179 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369984329 CA9471378 |
179 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372369574 CA406112884 |
179 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9471377 rs770334700 |
180 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA406112825 rs587777006 |
183 | R>G | Craniosynostosis 4 (crs4) [Ensembl] | No |
ClinGen gnomAD |
|
CA406112815 rs1167088284 |
183 | R>Q | No |
ClinGen gnomAD |
|
|
CA406112721 rs1281970128 |
188 | D>N | No |
ClinGen TOPMed |
|
|
rs1228316460 CA406112597 |
192 | G>V | No |
ClinGen TOPMed |
|
|
rs1030636513 CA308637983 |
193 | T>M | No |
ClinGen gnomAD |
|
|
CA9471371 rs758497035 |
199 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9471372 rs758497035 |
199 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406111471 rs1247764419 |
200 | L>Q | No |
ClinGen TOPMed |
|
|
rs753759966 CA9471367 |
201 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA9471366 rs763963171 |
205 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763963171 CA406111398 |
205 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9471365 VAR_048947 rs1053655 |
205 | R>H | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
COSM1394072 rs767080643 CA9471363 |
206 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1299252365 CA406111373 |
206 | A>V | No |
ClinGen gnomAD |
|
|
rs759092904 CA9471362 |
207 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs751267889 CA406111356 |
208 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs751267889 CA9471361 |
208 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9471359 rs762208605 |
211 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs777136618 CA9471358 |
212 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1379817203 CA406111280 |
213 | D>E | No |
ClinGen gnomAD |
|
|
rs896685989 CA308637934 |
215 | G>A | No |
ClinGen Ensembl |
|
|
CA406111216 rs1425504754 |
218 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA9471356 rs761263189 |
218 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9471355 rs775409470 |
220 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9471352 rs779162156 |
221 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352824213 CA406111145 |
222 | L>P | No |
ClinGen TOPMed |
|
|
CA406111140 rs1231984433 |
223 | A>T | No |
ClinGen gnomAD |
|
|
CA308637918 rs368133138 |
223 | A>V | No |
ClinGen ESP |
|
|
CA406111116 rs1320701373 |
224 | R>C | No |
ClinGen gnomAD |
|
|
CA9471350 rs749016801 |
224 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749016801 CA406111112 |
224 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406111082 rs1325703747 |
226 | P>L | No |
ClinGen gnomAD |
|
|
rs755956543 CA9471348 |
226 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1331142141 CA406111062 |
227 | H>Q | No |
ClinGen gnomAD |
|
|
CA406111043 rs1393816753 |
228 | D>A | No |
ClinGen gnomAD |
|
|
CA9471347 rs752733313 |
228 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1393816753 CA406111047 |
228 | D>G | No |
ClinGen gnomAD |
|
|
CA406111058 rs1387580983 |
228 | D>H | No |
ClinGen gnomAD |
|
|
rs1459785132 CA406111036 |
229 | P>A | No |
ClinGen gnomAD |
|
|
CA406111031 rs1324713792 |
229 | P>L | No |
ClinGen TOPMed |
|
|
rs754586626 CA9471346 |
233 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA9471345 rs754586626 |
233 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs766060945 CA9471343 |
235 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9471344 rs751161674 |
235 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1371131478 CA406110932 |
236 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA406110916 rs1568471670 |
237 | R>Q | No |
ClinGen Ensembl |
|
|
rs762723221 CA9471342 |
237 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs764599393 CA9471340 |
239 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754203690 CA9471341 |
239 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1254035180 | 240 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9471339 rs761055327 |
240 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA308637889 rs944954520 |
244 | P>L | No |
ClinGen TOPMed |
|
|
rs1259223659 CA406110806 |
244 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1429817706 CA406110773 |
246 | S>I | No |
ClinGen TOPMed |
|
|
rs776130446 CA9471338 |
246 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs371883298 CA9471337 |
247 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1234234314 CA406110735 |
248 | F>C | No |
ClinGen gnomAD |
|
|
CA406110726 rs1370586308 |
249 | P>S | No |
ClinGen gnomAD |
|
|
rs1449028945 CA406110655 |
252 | P>L | No |
ClinGen gnomAD |
|
|
rs866520643 CA308637874 |
254 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs771103636 CA9471334 |
255 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406110581 rs1174171929 |
255 | G>D | No |
ClinGen gnomAD |
|
|
CA406110591 rs771103636 |
255 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs986489946 CA308637871 |
257 | G>V | No |
ClinGen gnomAD |
|
|
CA9471333 rs749536161 |
258 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9471331 rs769674715 |
262 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777523115 CA9471332 |
262 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1181706192 CA406110414 |
265 | S>C | No |
ClinGen gnomAD |
|
|
CA406110396 rs1436649291 |
266 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1235823610 CA406110384 |
267 | A>P | No |
ClinGen TOPMed |
|
|
rs1212114312 CA406110376 |
267 | A>V | No |
ClinGen gnomAD |
|
|
CA406110357 rs1278406403 |
269 | P>S | No |
ClinGen gnomAD |
|
|
rs1242588870 CA406110327 |
270 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs374191725 CA9471325 |
273 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374191725 CA9471324 |
273 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1415117272 CA406110257 |
274 | H>Q | No |
ClinGen gnomAD |
|
|
rs1335913313 CA406110270 |
274 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA9471321 rs753014847 |
277 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1157528042 CA406110187 |
278 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 279 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255858306 CA406110068 |
284 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA406110046 rs1317815490 |
285 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1219051518 CA406110061 |
285 | P>S | No |
ClinGen gnomAD |
|
|
CA9471314 rs769466728 |
286 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1366694982 CA406109988 |
288 | P>S | No |
ClinGen TOPMed |
|
|
rs1358587569 CA406109945 |
290 | G>D | No |
ClinGen gnomAD |
|
|
CA406109899 rs1354570172 |
292 | G>E | No |
ClinGen gnomAD |
|
|
rs776319250 CA9471312 |
292 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406109895 rs1354570172 |
292 | G>V | No |
ClinGen gnomAD |
|
|
rs1276170578 CA406109886 |
293 | G>E | No |
ClinGen gnomAD |
|
|
CA406109875 rs1345473113 |
294 | P>A | No |
ClinGen gnomAD |
|
|
rs746988019 CA406109869 |
294 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746988019 CA9471310 |
294 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406109865 rs746988019 |
294 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406109880 rs1345473113 |
294 | P>T | No |
ClinGen gnomAD |
|
|
rs1555750642 RCV000514123 |
295 | S>missing | No |
ClinVar dbSNP |
|
| rs1555750642 | 295 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1415332567 CA406109858 |
295 | S>G | No |
ClinGen gnomAD |
|
|
CA9471309 rs779675809 |
295 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745501213 CA9471307 |
296 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9471306 rs778567928 |
297 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA9471305 rs756863883 |
298 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406109791 rs756863883 |
298 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs780487406 | 299 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 306 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1266495605 CA406109615 |
307 | P>S | No |
ClinGen TOPMed |
|
|
rs375702097 CA9471302 |
308 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9471300 rs752101971 |
312 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9471301 rs755455023 |
312 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766445497 CA9471299 |
314 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA9471297 rs773296866 |
315 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1392977159 CA406109377 |
318 | T>I | No |
ClinGen gnomAD |
|
|
rs761960986 CA9471295 |
320 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA406109322 rs1419256108 |
320 | S>N | No |
ClinGen gnomAD |
|
|
CA406109296 rs1479167706 |
321 | V>I | No |
ClinGen gnomAD |
|
|
rs746938827 CA9471292 |
324 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA406109233 rs1369675270 |
324 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 324 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406109194 rs1467215711 |
325 | H>Q | No |
ClinGen gnomAD |
|
|
rs1307797425 CA406109135 COSM325268 |
329 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1272093617 CA406109127 |
329 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756887571 CA406109123 |
330 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756887571 CA9471287 |
330 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781590022 CA9471285 |
333 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1568471206 CA406109051 |
333 | H>Y | No |
ClinGen Ensembl |
|
|
rs1434607851 CA406108868 |
339 | V>L | No |
ClinGen TOPMed |
|
|
CA9471281 rs758914076 |
341 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406108668 rs1395870549 |
344 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9471279 rs377467874 |
344 | R>H | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1265977248 CA406108634 |
345 | P>L | No |
ClinGen TOPMed |
|
|
CA9471277 rs762060326 |
346 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs754070619 CA406108582 |
346 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1178861901 CA406108510 |
348 | C>F | No |
ClinGen gnomAD |
|
|
rs370719643 CA9471273 |
350 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1421470935 CA406108464 |
350 | L>R | No |
ClinGen TOPMed |
|
|
rs376130330 CA9471270 COSM334116 |
351 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs759570663 CA9471271 |
351 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372854370 CA9471267 |
355 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406108340 rs897260918 |
356 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs897260918 CA308637653 |
356 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1470519569 CA406108284 |
358 | P>L | No |
ClinGen Ensembl |
|
|
CA406108286 rs1381450544 |
358 | P>S | No |
ClinGen TOPMed |
|
|
rs780415692 CA9471264 |
359 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747311260 CA9471265 |
359 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538236832 CA9471261 |
363 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406108145 rs1249674965 |
364 | A>S | No |
ClinGen gnomAD |
|
|
CA406108156 rs1249674965 |
364 | A>T | No |
ClinGen gnomAD |
|
|
CA406108132 rs1175444897 |
364 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1193846 rs753965187 CA9471259 |
365 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1049744926 CA308637583 |
369 | S>F | No |
ClinGen Ensembl |
|
|
CA308637578 rs767470579 |
371 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs767470579 CA9471252 |
371 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 374 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1305404363 CA406107889 |
374 | P>S | No |
ClinGen gnomAD |
|
|
CA9471248 rs759487353 |
375 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406107841 rs1356484827 |
375 | F>L | No |
ClinGen gnomAD |
|
|
CA406107635 rs1063897 |
381 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1063897 CA308637537 |
381 | P>R | No |
ClinGen TOPMed |
|
|
CA406107503 rs1453098687 |
386 | R>H | No |
ClinGen gnomAD |
|
|
CA406107480 rs1476179769 |
387 | R>Q | No |
ClinGen gnomAD |
|
|
CA308637501 rs868009009 |
387 | R>W | No |
ClinGen gnomAD |
|
|
rs923763445 COSM374312 CA308637498 |
389 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA308637500 rs923763445 |
389 | R>Q | No |
ClinGen TOPMed |
|
|
rs1599820769 CA406107420 |
389 | R>W | No |
ClinGen Ensembl |
|
|
rs747844852 CA9471242 |
390 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1599820741 RCV001008368 |
393 | E>missing | No |
ClinVar dbSNP |
|
|
CA406107302 rs1187017427 |
393 | E>K | No |
ClinGen gnomAD |
|
|
rs373026073 CA9471241 |
394 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406107195 rs1310112944 |
394 | K>N | No |
ClinGen TOPMed |
|
|
CA9471238 rs567417863 |
396 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9471235 rs1483747782 |
397 | A>G | No |
ClinGen TOPMed |
|
|
rs1483747782 CA406107103 |
397 | A>V | No |
ClinGen TOPMed |
|
|
rs111793182 CA9471233 |
398 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1293041987 CA406106972 |
400 | D>H | No |
ClinGen gnomAD |
|
|
CA406106971 rs1293041987 |
400 | D>N | No |
ClinGen gnomAD |
|
|
CA406106934 rs1482952412 |
401 | K>R | No |
ClinGen TOPMed |
|
|
CA406106906 rs1326716475 |
402 | S>N | No |
ClinGen gnomAD |
|
|
rs754788068 CA9471229 |
402 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9471227 rs751388026 |
403 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9471226 rs534018115 |
404 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9471225 rs534018115 |
404 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs905310462 CA308637440 |
405 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1462928759 CA406106795 |
405 | S>I | No |
ClinGen gnomAD |
|
|
rs905310462 CA406106814 |
405 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA406106723 rs1395063212 |
406 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1390865410 CA406106705 |
407 | G>D | No |
ClinGen TOPMed |
|
|
rs373251870 CA9471222 |
408 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764764288 CA9471223 |
408 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406106613 rs1295117377 |
410 | A>V | No |
ClinGen TOPMed |
|
|
CA308637421 rs915295153 |
413 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA308637426 rs994349738 |
413 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA308637420 rs915295153 |
413 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1343709997 CA406106525 |
414 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 414 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA308637419 rs139842507 |
415 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771292199 CA9471216 |
416 | L>V | No |
ClinGen ExAC |
|
|
rs777970610 CA9471212 |
417 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9471213 rs749850802 |
417 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs749850802 CA406106471 |
417 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs756329901 CA9471211 |
418 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9471209 rs781509895 |
419 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324955015 CA406106392 |
420 | P>T | No |
ClinGen gnomAD |
|
|
rs1599820391 CA406106359 |
421 | P>A | No |
ClinGen Ensembl |
|
|
rs776121744 CA9471201 |
425 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406106247 rs1168327230 |
426 | K>N | No |
ClinGen gnomAD |
|
|
rs1199978966 CA406106238 |
427 | V>L | No |
ClinGen gnomAD |
|
|
CA406106189 rs1175162734 |
429 | P>H | No |
ClinGen gnomAD |
|
|
CA9471200 rs141603714 |
429 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774556485 CA9471198 |
431 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA406106082 rs1245273344 |
433 | G>A | No |
ClinGen Ensembl |
|
|
CA9471195 rs773915281 |
435 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA406105965 rs1599820281 |
438 | V>G | No |
ClinGen Ensembl |
|
|
rs770438845 CA406105979 |
438 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9471194 rs770438845 |
438 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA406105912 rs1599820272 |
440 | V>G | No |
ClinGen Ensembl |
|
|
rs748175534 CA9471193 |
441 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1347222091 CA406105842 |
444 | S>G | No |
ClinGen gnomAD |
|
|
rs768716522 CA9471191 |
445 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA9471190 rs747308083 |
446 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1329486990 CA406105667 |
449 | E>K | No |
ClinGen gnomAD |
|
|
CA9471186 rs778754760 |
451 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9471187 rs750229302 |
451 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA406105595 rs778754760 |
451 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599820191 CA406105519 |
453 | V>G | No |
ClinGen Ensembl |
|
|
rs757215993 CA9471185 |
453 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA406105512 rs1292571193 |
454 | F>L | No |
ClinGen TOPMed |
|
|
rs1320311264 CA406105478 |
455 | K>E | No |
ClinGen TOPMed |
|
|
CA9471184 rs376964824 |
456 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766642440 CA9471180 |
458 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766642440 CA9471181 |
458 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9471179 rs763354193 |
458 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482244260 CA406105370 |
459 | A>V | No |
ClinGen gnomAD |
|
|
CA406105336 rs1211859850 |
461 | P>S | No |
ClinGen gnomAD |
|
|
CA406105327 rs1485488355 |
462 | A>T | No |
ClinGen gnomAD |
|
|
CA406105299 rs1225495806 |
463 | P>A | No |
ClinGen gnomAD |
|
|
CA406105288 rs1351537439 |
463 | P>L | No |
ClinGen gnomAD |
|
|
rs1348384099 CA406105268 |
464 | P>R | No |
ClinGen gnomAD |
|
|
CA406105283 rs1238261404 |
464 | P>T | No |
ClinGen gnomAD |
|
|
rs367946660 CA9471175 |
465 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1186281707 CA406105252 |
465 | K>T | No |
ClinGen Ensembl |
|
|
CA406105224 rs1414987553 |
466 | P>L | No |
ClinGen gnomAD |
|
|
rs979226353 CA308637163 |
468 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9471173 rs780261925 |
469 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308637159 rs990909606 |
469 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9471172 rs780261925 |
469 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs62119632 CA308637152 |
470 | E>K | No |
ClinGen gnomAD |
|
|
CA308637147 rs960372517 |
471 | A>V | No |
ClinGen gnomAD |
|
|
rs745620257 CA9471170 |
472 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs868252252 CA308637134 |
474 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs562281233 CA9471167 |
478 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 483 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406104658 rs1354585974 |
486 | R>Q | No |
ClinGen gnomAD |
|
|
rs1233632467 CA406104666 |
486 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9471163 rs767131852 |
487 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1286494808 CA406104647 |
487 | R>H | No |
ClinGen TOPMed |
|
|
rs1233189324 CA406104603 |
489 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 491 | D>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA308637103 rs1005681632 |
491 | D>G | No |
ClinGen Ensembl |
|
|
CA9471160 rs765749962 |
492 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA406104467 rs1397259156 |
493 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA406104459 rs762382429 |
493 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA406104446 rs1412097931 |
494 | L>F | No |
ClinGen gnomAD |
|
|
CA9471154 rs772231752 |
495 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs774100223 CA406104397 |
496 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs774100223 CA9471152 |
496 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA9471153 rs746136866 |
496 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA308637074 rs901205533 |
497 | G>C | No |
ClinGen TOPMed |
|
|
CA308637078 rs901205533 |
497 | G>R | No |
ClinGen TOPMed |
|
|
CA406104389 rs901205533 |
497 | G>S | No |
ClinGen TOPMed |
|
|
rs144595082 CA9471150 |
499 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9471151 rs368823305 |
499 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144595082 CA9471149 |
499 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9471146 rs760204780 |
501 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9471145 rs760204780 |
501 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402427656 CA406104271 |
501 | A>V | No |
ClinGen TOPMed |
|
|
CA9471144 rs199548884 |
502 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406104199 rs1296440566 |
504 | F>S | No |
ClinGen gnomAD |
|
|
CA9471143 rs751301163 |
506 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA308636983 rs1043952558 |
507 | E>D | No |
ClinGen TOPMed |
|
|
CA406104103 rs1440898775 |
508 | G>D | No |
ClinGen gnomAD |
|
|
rs1327099355 CA406104113 |
508 | G>S | No |
ClinGen gnomAD |
|
|
rs1348498073 RCV000891552 CA406104078 |
509 | E>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA406104044 rs1331688961 |
511 | K>N | No |
ClinGen TOPMed |
|
|
CA9471141 rs757633698 |
513 | V>L | No |
ClinGen ExAC |
|
|
rs764618715 CA9471139 |
514 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406103985 rs1410725157 COSM439639 |
514 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs764618715 CA9471140 |
514 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455599534 CA406103967 |
515 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA406103969 rs1455599534 |
515 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9471137 rs775615410 |
515 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1194182351 CA406103948 |
516 | E>Q | No |
ClinGen gnomAD |
|
|
rs142701692 CA9471135 |
517 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406103899 COSM1205628 rs1307887473 |
518 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs774614782 CA9471134 |
518 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1273385423 CA406103880 |
519 | G>R | No |
ClinGen gnomAD |
|
|
rs1273385423 CA406103876 |
519 | G>W | No |
ClinGen gnomAD |
|
|
rs1221140466 CA406103828 |
522 | G>A | No |
ClinGen TOPMed |
|
|
rs927651535 CA308636930 CA406103836 |
522 | G>R | No |
ClinGen gnomAD |
|
|
CA9471132 rs749047048 |
523 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA308636926 rs771156538 CA9471133 |
523 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366176199 RCV000521416 |
525 | L>missing | No |
ClinVar dbSNP |
|
| rs1366176199 | 525 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406103752 rs1568470093 |
527 | P>S | No |
ClinGen Ensembl |
|
|
CA308636923 rs1014064179 |
528 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs769726767 CA9471130 |
529 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200428259 CA9471131 |
529 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1599819534 CA406103694 |
530 | V>G | No |
ClinGen Ensembl |
|
|
rs1599819544 CA406103703 |
530 | V>L | No |
ClinGen Ensembl |
|
|
rs748087393 CA9471129 |
532 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA406103631 rs1599819518 |
533 | D>A | No |
ClinGen Ensembl |
|
|
rs780822790 CA308636901 |
536 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs754606400 CA9471127 |
536 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9471128 rs780822790 |
536 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA406103528 rs1377968522 |
538 | T>K | No |
ClinGen TOPMed |
|
|
rs1170444132 CA406103460 |
540 | Q>H | No |
ClinGen TOPMed |
|
|
rs1178888044 CA406103415 |
542 | S>F | No |
ClinGen gnomAD |
|
|
CA9471124 rs758014519 |
544 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308636885 rs758014519 |
544 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754180432 CA9471123 |
545 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs936669722 CA308636857 |
546 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1231830785 CA406103334 |
547 | D>G | No |
ClinGen TOPMed gnomAD |
2 associated diseases with P50548
[MIM: 600775]: Craniosynostosis 4 (CRS4)
A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. {ECO:0000269|PubMed:23354439}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 617180]: Chitayat syndrome (CHYTS)
An autosomal dominant syndrome characterized by hyperphalangism, partial syndactyly, bilateral accessory phalanx resulting in shortened index fingers, hallux valgus, brachydactyly, facial anomalies, diffuse bronchomalacia, and respiratory distress at birth and in infancy. {ECO:0000269|PubMed:27738187}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. {ECO:0000269|PubMed:23354439}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant syndrome characterized by hyperphalangism, partial syndactyly, bilateral accessory phalanx resulting in shortened index fingers, hallux valgus, brachydactyly, facial anomalies, diffuse bronchomalacia, and respiratory distress at birth and in infancy. {ECO:0000269|PubMed:27738187}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for P50548
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Ets domain | 26 - 111 | IPR000418 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription repressor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II. |
| sequence-specific DNA binding | Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
40 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A1A4L6 | ETS2 | Protein C-ets-2 | Bos taurus (Bovine) | SS |
| Q2KIC2 | ETV1 | ETS translocation variant 1 | Bos taurus (Bovine) | SS |
| P15062 | ETS1 | Transforming protein p68/c-ets-1 | Gallus gallus (Chicken) | SS |
| P10157 | ETS2 | Protein C-ets-2 | Gallus gallus (Chicken) | SS |
| Q90837 | ERG | Transcriptional regulator Erg | Gallus gallus (Chicken) | SS |
| A2T762 | ETV3 | ETS translocation variant 3 | Pan troglodytes (Chimpanzee) | PR |
| Q04688 | Ets97D | DNA-binding protein Ets97D | Drosophila melanogaster (Fruit fly) | PR |
| Q9Y603 | ETV7 | Transcription factor ETV7 | Homo sapiens (Human) | SS |
| P41212 | ETV6 | Transcription factor ETV6 | Homo sapiens (Human) | SS |
| P78545 | ELF3 | ETS-related transcription factor Elf-3 | Homo sapiens (Human) | SS |
| Q9UKW6 | ELF5 | ETS-related transcription factor Elf-5 | Homo sapiens (Human) | EV |
| P32519 | ELF1 | ETS-related transcription factor Elf-1 | Homo sapiens (Human) | PR |
| Q99607 | ELF4 | ETS-related transcription factor Elf-4 | Homo sapiens (Human) | PR |
| Q06546 | GABPA | GA-binding protein alpha chain | Homo sapiens (Human) | SS |
| O95238 | SPDEF | SAM pointed domain-containing Ets transcription factor | Homo sapiens (Human) | PR |
| P41162 | ETV3 | ETS translocation variant 3 | Homo sapiens (Human) | PR |
| P11308 | ERG | Transcriptional regulator ERG | Homo sapiens (Human) | EV |
| P43268 | ETV4 | ETS translocation variant 4 | Homo sapiens (Human) | EV |
| P41161 | ETV5 | ETS translocation variant 5 | Homo sapiens (Human) | SS |
| P50549 | ETV1 | ETS translocation variant 1 | Homo sapiens (Human) | EV |
| P41970 | ELK3 | ETS domain-containing protein Elk-3 | Homo sapiens (Human) | SS |
| P28324 | ELK4 | ETS domain-containing protein Elk-4 | Homo sapiens (Human) | EV |
| P19419 | ELK1 | ETS domain-containing protein Elk-1 | Homo sapiens (Human) | EV |
| P15036 | ETS2 | Protein C-ets-2 | Homo sapiens (Human) | EV |
| P14921 | ETS1 | Protein C-ets-1 | Homo sapiens (Human) | EV |
| P41971 | Elk3 | ETS domain-containing protein Elk-3 | Mus musculus (Mouse) | EV |
| Q00422 | Gabpa | GA-binding protein alpha chain | Mus musculus (Mouse) | EV |
| P41969 | Elk1 | ETS domain-containing protein Elk-1 | Mus musculus (Mouse) | PR |
| P28322 | Etv4 | ETS translocation variant 4 | Mus musculus (Mouse) | SS |
| P15037 | Ets2 | Protein C-ets-2 | Mus musculus (Mouse) | SS |
| P27577 | Ets1 | Protein C-ets-1 | Mus musculus (Mouse) | EV |
| Q9CXC9 | Etv5 | ETS translocation variant 5 | Mus musculus (Mouse) | SS |
| P41158 | Elk4 | ETS domain-containing protein Elk-4 | Mus musculus (Mouse) | PR |
| P41164 | Etv1 | ETS translocation variant 1 | Mus musculus (Mouse) | SS |
| P81270 | Erg | Transcriptional regulator ERG | Mus musculus (Mouse) | SS |
| P70459 | Erf | ETS domain-containing transcription factor ERF | Mus musculus (Mouse) | PR |
| P41156 | Ets1 | Protein C-ets-1 | Rattus norvegicus (Rat) | SS |
| A4GTP4 | Elk1 | ETS domain-containing protein Elk-1 | Rattus norvegicus (Rat) | PR |
| Q9PUQ1 | etv4 | ETS translocation variant 4 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| A3FEM2 | fev | Protein FEV | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKTPADTGFA | FPDWAYKPES | SPGSRQIQLW | HFILELLRKE | EYQGVIAWQG | DYGEFVIKDP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DEVARLWGVR | KCKPQMNYDK | LSRALRYYYN | KRILHKTKGK | RFTYKFNFNK | LVLVNYPFID |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VGLAGGAVPQ | SAPPVPSGGS | HFRFPPSTPS | EVLSPTEDPR | SPPACSSSSS | SLFSAVVARR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LGRGSVSDCS | DGTSELEEPL | GEDPRARPPG | PPDLGAFRGP | PLARLPHDPG | VFRVYPRPRG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GPEPLSPFPV | SPLAGPGSLL | PPQLSPALPM | TPTHLAYTPS | PTLSPMYPSG | GGGPSGSGGG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SHFSFSPEDM | KRYLQAHTQS | VYNYHLSPRA | FLHYPGLVVP | QPQRPDKCPL | PPMAPETPPV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PSSASSSSSS | SSSPFKFKLQ | PPPLGRRQRA | AGEKAVAGAD | KSGGSAGGLA | EGAGALAPPP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PPPQIKVEPI | SEGESEEVEV | TDISDEDEED | GEVFKTPRAP | PAPPKPEPGE | APGASQCMPL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KLRFKRRWSE | DCRLEGGGGP | AGGFEDEGED | KKVRGEGPGE | AGGPLTPRRV | SSDLQHATAQ |
| LSLEHRDS |