Q96N96
Gene name |
SPATA13 |
Protein name |
Spermatogenesis-associated protein 13 |
Names |
APC-stimulated guanine nucleotide exchange factor 2, Asef2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:221178 |
EC number |
|
Protein Class |
RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 4 (PTHR47544) |

Descriptions
SPATA13 is a guanine nucleotide exchange factor (GEF). SPATA13 contains an N-terminal APC binding region (ABR), Src-homology 3 (SH3) domain, DH domain, and PH domain.The ABR-SH3 binds to the C-terminal tail of SPATA13, allowing it to function as an autoinhibitory module within the protein. The primary function of the SH3 is to sequester a C-terminal activation element and prevent the tail from participating in Cdc42 GDP/GTP exchange. Thus, SPATA13 activation involves APC releasing the SH3 from the C-terminal tail, resulting in Cdc42 exchange.
Autoinhibitory domains (AIDs)
Target domain |
561-652 (C-terminal tail) |
Relief mechanism |
Partner binding |
Assay |
Split protein assay, Deletion assay |
Accessory elements
No accessory elements
References
- Hamann MJ et al. (2007) "Asef2 functions as a Cdc42 exchange factor and is stimulated by the release of an autoinhibitory module from a concealed C-terminal activation element", Molecular and cellular biology, 27, 1380-93
- Murayama K et al. (2007) "Crystal structure of the rac activator, Asef, reveals its autoinhibitory mechanism", The Journal of biological chemistry, 282, 4238-4242
- Mitin N et al. (2007) "Release of autoinhibition of ASEF by APC leads to CDC42 activation and tumor suppression", Nature structural & molecular biology, 14, 814-23
Autoinhibited structure

Activated structure

1 structures for Q96N96
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q96N96-F1 | Predicted | AlphaFoldDB |
492 variants for Q96N96
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA6914006 rs771789214 |
2 | T>A | No |
ClinGen ExAC gnomAD |
|
CA387542196 rs1338604553 |
4 | A>V | No |
ClinGen gnomAD |
|
rs1252362231 CA387542217 |
6 | P>S | No |
ClinGen gnomAD |
|
CA387542235 rs1211751374 |
8 | D>Y | No |
ClinGen TOPMed |
|
rs1400586642 CA387542273 |
11 | A>T | No |
ClinGen gnomAD |
|
CA246727160 rs538499853 |
16 | P>A | No |
ClinGen 1000Genomes |
|
rs766640323 CA6914009 |
17 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs143963425 CA6914010 |
19 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA246727168 rs1034691989 |
19 | A>P | No |
ClinGen TOPMed gnomAD |
|
rs1034691989 CA387542358 |
19 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs7330736 CA246727181 |
20 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1016749810 CA246727183 |
20 | R>Q | No |
ClinGen TOPMed |
|
rs7330736 CA6914011 VAR_030776 |
20 | R>W | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs765671845 CA6914012 |
21 | R>S | No |
ClinGen ExAC gnomAD |
|
CA6914013 rs752792781 |
22 | R>S | No |
ClinGen ExAC |
|
CA6914014 rs762897184 |
23 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764428674 CA6914015 |
23 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387542402 rs1555272419 |
25 | I>V | No |
ClinGen Ensembl |
|
CA6914017 rs756006988 |
27 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1227719898 CA387542430 |
28 | I>L | No |
ClinGen gnomAD |
|
CA6914019 rs753630837 |
28 | I>R | No |
ClinGen ExAC gnomAD |
|
CA387542433 rs1227719898 |
28 | I>V | No |
ClinGen gnomAD |
|
rs80073311 CA6914020 |
31 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1292764788 CA387542462 |
31 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA6914022 rs747736036 |
34 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6914023 rs747736036 |
34 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1252983159 CA387542497 |
34 | Y>H | No |
ClinGen gnomAD |
|
CA387542514 rs1397118814 COSM183504 |
35 | G>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA6914024 rs777538536 |
37 | N>K | No |
ClinGen ExAC gnomAD |
|
rs1487937076 CA387542536 |
37 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA387542539 rs1191369136 |
38 | Q>K | No |
ClinGen gnomAD |
|
rs574832935 CA246727238 |
38 | Q>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs746637753 CA6914025 |
39 | T>A | No |
ClinGen ExAC gnomAD |
|
rs543934868 CA6914027 |
39 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA246727247 rs746637753 |
39 | T>P | No |
ClinGen ExAC gnomAD |
|
CA6914026 rs746637753 |
39 | T>S | No |
ClinGen ExAC gnomAD |
|
CA387542558 rs1427970419 |
40 | E>Q | No |
ClinGen gnomAD |
|
CA246727278 rs377093885 |
43 | D>H | No |
ClinGen ESP TOPMed gnomAD |
|
rs199892055 CA6914029 |
44 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6914030 rs775826323 |
45 | L>H | No |
ClinGen ExAC gnomAD |
|
rs764078951 CA6914032 |
46 | L>P | No |
ClinGen ExAC gnomAD |
|
rs751595144 CA6914033 |
48 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA6914055 rs765118612 |
49 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765118612 CA246728188 |
49 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758280335 CA6914057 |
52 | R>S | No |
ClinGen ExAC gnomAD |
|
CA6914058 rs764040950 |
53 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6914061 rs780869193 |
55 | M>I | No |
ClinGen ExAC gnomAD |
|
CA6914062 rs745517993 |
56 | P>H | No |
ClinGen ExAC gnomAD |
|
CA6914063 rs755699463 |
58 | H>D | No |
ClinGen ExAC gnomAD |
|
rs1379822437 CA387544107 |
59 | Q>K | No |
ClinGen TOPMed |
|
rs975104734 CA246728229 |
60 | V>A | No |
ClinGen TOPMed |
|
CA246728214 rs965377088 |
60 | V>L | No |
ClinGen Ensembl |
|
rs780300027 CA6914064 |
61 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749619305 CA6914065 |
63 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs1232750956 CA387544193 |
65 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA387544190 rs1232750956 |
65 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs774891172 CA6914067 |
66 | V>M | No |
ClinGen ExAC gnomAD |
|
CA6914068 rs748289915 |
67 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6914070 rs773634985 |
68 | A>S | No |
ClinGen ExAC gnomAD |
|
CA6914074 rs147629761 |
69 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs147629761 CA6914073 |
69 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs766565372 CA6914072 |
69 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1593463157 CA387544263 |
70 | F>V | No |
ClinGen Ensembl |
|
CA387544280 rs1415903324 |
71 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA6914076 rs377038249 |
71 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA387544302 rs1593463186 |
73 | F>L | No |
ClinGen Ensembl |
|
rs755789458 CA6914080 |
76 | S>C | No |
ClinGen ExAC gnomAD |
|
rs370362895 CA246728297 |
77 | Q>* | No |
ClinGen ESP TOPMed |
|
CA387544395 rs1593463212 |
79 | T>P | No |
ClinGen Ensembl |
|
rs1043971889 CA246728305 |
80 | P>H | No |
ClinGen TOPMed |
|
rs1414266905 CA387544408 |
80 | P>S | No |
ClinGen gnomAD |
|
rs375832060 CA6914083 |
81 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375832060 CA387544420 |
81 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6914084 rs779348512 |
85 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6914085 rs142261154 |
85 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA387544481 rs142261154 |
85 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs374176784 CA246728345 |
86 | V>M | No |
ClinGen ESP TOPMed |
|
rs750437771 CA6914086 |
88 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773438885 CA6914087 |
88 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs745333635 CA6914089 |
89 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201402934 CA6914088 VAR_080767 |
89 | R>W | found in two consanguineous families with intellectual disability; unknown pathological significance [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
CA6914091 rs762702436 |
90 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776877407 CA6914090 |
90 | R>W | No |
ClinGen ExAC gnomAD |
|
CA246728367 rs770233205 |
92 | M>L | No |
ClinGen gnomAD |
|
rs1420142166 CA387544585 |
94 | A>S | No |
ClinGen gnomAD |
|
CA6914092 rs768481237 |
95 | S>Y | No |
ClinGen ExAC gnomAD |
|
rs1447474589 CA387552207 |
97 | V>A | No |
ClinGen TOPMed |
|
CA387544626 rs146456606 |
97 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6914093 COSM3384781 rs146456606 COSM3384780 |
97 | V>I | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA387552224 rs1250372749 |
100 | D>G | No |
ClinGen gnomAD |
|
CA6914175 rs755213595 |
100 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387552222 rs755213595 |
100 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1044536629 CA246752021 |
101 | G>R | No |
ClinGen TOPMed |
|
CA387552237 rs778961788 |
102 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387552236 rs778961788 |
102 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6914176 rs778961788 |
102 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199595659 CA6914177 |
104 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs781243649 CA6914179 |
105 | P>L | No |
ClinGen ExAC gnomAD |
|
rs769785566 CA6914181 |
112 | N>S | No |
ClinGen ExAC gnomAD |
|
CA6914183 rs531600403 |
113 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs531600403 CA246752067 |
113 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs768466442 CA6914184 |
114 | S>G | No |
ClinGen ExAC gnomAD |
|
CA387552311 rs78997458 |
114 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6914185 rs78997458 |
114 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA387552312 rs60974700 |
114 | S>R | No |
ClinGen 1000Genomes gnomAD |
|
rs762296887 CA6914186 |
118 | F>I | No |
ClinGen ExAC |
|
rs990477708 CA246752080 |
120 | Y>C | No |
ClinGen TOPMed |
|
rs990477708 CA387552357 |
120 | Y>F | No |
ClinGen TOPMed |
|
rs1266391837 CA387552355 |
120 | Y>H | No |
ClinGen TOPMed |
|
rs1293867873 CA387552372 |
122 | D>G | No |
ClinGen gnomAD |
|
CA6914187 rs772320278 |
123 | L>V | No |
ClinGen ExAC gnomAD |
|
CA246752085 rs752072405 |
124 | C>R | No |
ClinGen Ensembl |
|
CA387552391 rs1305063675 |
125 | Q>P | No |
ClinGen gnomAD |
|
CA387552399 rs1349953532 |
126 | A>D | No |
ClinGen gnomAD |
|
rs1349953532 CA387552401 |
126 | A>V | No |
ClinGen gnomAD |
|
rs201006373 CA6914189 |
128 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6914191 rs376912782 |
129 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs755337296 CA6914190 |
129 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387552422 rs1390688120 |
130 | Y>C | No |
ClinGen TOPMed |
|
CA387552438 rs1489640991 |
132 | Q>H | No |
ClinGen gnomAD |
|
rs1233825323 CA387552445 |
134 | G>S | No |
ClinGen gnomAD |
|
CA6914194 rs752845172 |
135 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1415637218 CA387552459 |
136 | E>A | No |
ClinGen gnomAD |
|
rs1593497657 CA387552457 |
136 | E>Q | No |
ClinGen Ensembl |
|
CA246752157 rs977440609 |
139 | A>T | No |
ClinGen Ensembl |
|
CA387552484 rs1165336436 |
140 | I>N | No |
ClinGen gnomAD |
|
rs148292690 CA6914196 |
140 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA387552489 rs1260187075 |
141 | N>D | No |
ClinGen TOPMed gnomAD |
|
rs1377887383 CA387552494 |
141 | N>K | No |
ClinGen TOPMed |
|
rs140515823 CA6914197 |
141 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6914225 rs58889617 |
145 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs746364346 CA6914227 |
146 | D>V | No |
ClinGen ExAC |
|
CA6914228 rs770276802 |
147 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387552808 rs1330046571 |
147 | G>R | No |
ClinGen TOPMed |
|
CA246753953 rs770276802 |
147 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775452366 CA6914230 |
148 | N>I | No |
ClinGen ExAC gnomAD |
|
rs775452366 CA6914229 |
148 | N>S | No |
ClinGen ExAC gnomAD |
|
rs774702277 CA6914232 |
149 | V>A | No |
ClinGen ExAC gnomAD |
|
CA6914231 rs372766436 |
149 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM551048 COSM1140362 rs1566193583 CA387552823 |
150 | V>F | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs1282848401 CA387552832 |
151 | C>F | No |
ClinGen gnomAD |
|
rs766285133 CA6914234 |
152 | A>S | No |
ClinGen ExAC gnomAD |
|
rs766285133 CA246754004 |
152 | A>T | No |
ClinGen ExAC gnomAD |
|
CA6914237 rs376088972 |
155 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6914238 rs752186774 |
158 | H>N | No |
ClinGen ExAC gnomAD |
|
CA246754041 rs1001697277 |
158 | H>R | No |
ClinGen Ensembl |
|
rs1477143810 CA387552887 |
160 | T>A | No |
ClinGen TOPMed |
|
rs777456034 CA6914240 |
161 | M>V | No |
ClinGen ExAC gnomAD |
|
rs202004588 CA6914241 |
162 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA246754050 rs769572904 |
162 | D>N | No |
ClinGen TOPMed |
|
rs1430341743 CA387552916 |
164 | Q>* | No |
ClinGen TOPMed |
|
rs781549486 CA6914243 |
164 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1474132339 CA387552927 |
165 | E>D | No |
ClinGen gnomAD |
|
CA387552937 rs1187967753 |
167 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA6914244 rs746193464 |
169 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387552961 rs776044608 |
171 | G>R | No |
ClinGen ExAC gnomAD |
|
COSM3955455 COSM3955454 rs776044608 COSM3955456 CA6914246 |
171 | G>W | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA6914247 rs749386397 |
172 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768852418 CA6914248 |
175 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA387552998 rs1330843799 |
176 | V>A | No |
ClinGen gnomAD |
|
CA6914249 rs774505967 |
184 | W>* | No |
ClinGen ExAC gnomAD |
|
rs1038966065 CA246754110 |
185 | W>* | No |
ClinGen TOPMed |
|
COSM26285 rs267603784 CA246754121 |
186 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA387553066 rs1276191687 |
186 | W>R | No |
ClinGen gnomAD |
|
CA6914251 rs142906131 |
188 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs966369987 CA246754137 |
188 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA246754138 rs966369987 |
188 | R>L | No |
ClinGen TOPMed gnomAD |
|
CA387553082 rs1377009289 |
189 | S>G | No |
ClinGen gnomAD |
|
CA387553112 rs1331100189 |
191 | D>H | No |
ClinGen gnomAD |
|
CA387553143 COSM1720527 COSM1720528 rs1207950357 |
193 | E>K | NS [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA6914252 rs371187650 |
194 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1407347149 CA387553192 |
195 | W>* | No |
ClinGen TOPMed |
|
CA6914253 rs200244378 |
196 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs763599007 CA387553250 |
198 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762433072 CA6914256 |
198 | A>T | No |
ClinGen ExAC gnomAD |
|
CA6914257 rs763599007 |
198 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1463645710 CA387553276 |
199 | S>R | No |
ClinGen TOPMed |
|
rs142244461 CA6914260 |
201 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs142244461 CA246754173 |
201 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1371876337 CA387553398 |
204 | R>* | No |
ClinGen gnomAD |
|
CA387553399 rs1393786934 |
204 | R>Q | No |
ClinGen gnomAD |
|
CA6914279 rs143889062 |
208 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
CA246754375 rs1006326818 |
208 | E>K | No |
ClinGen TOPMed |
|
rs964443603 CA246754390 |
211 | S>L | No |
ClinGen TOPMed gnomAD |
|
CA387553475 rs1341134582 |
215 | S>I | No |
ClinGen gnomAD |
|
CA6914281 rs780480617 |
216 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754107229 CA6914283 |
216 | S>I | No |
ClinGen ExAC gnomAD |
|
rs754107229 CA6914282 |
216 | S>N | No |
ClinGen ExAC gnomAD |
|
CA246754410 rs148608098 |
216 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA387553479 rs780480617 |
216 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA246754423 rs903502840 |
217 | T>P | No |
ClinGen Ensembl |
|
CA387553485 rs1198786108 |
217 | T>S | No |
ClinGen gnomAD |
|
rs772262158 CA387553489 |
218 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772262158 CA6914286 |
218 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387553490 rs772262158 |
218 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748284162 CA6914285 |
218 | P>S | No |
ClinGen ExAC gnomAD |
|
CA6914288 rs9580914 |
219 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA387553495 rs1449174517 |
219 | S>R | No |
ClinGen TOPMed gnomAD |
|
CA6914289 rs9580914 |
219 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1593501219 CA387553509 |
221 | E>G | No |
ClinGen Ensembl |
|
rs1168914733 CA387553517 |
222 | Q>R | No |
ClinGen gnomAD |
|
rs1454542335 CA387553521 |
223 | D>Y | No |
ClinGen TOPMed gnomAD |
|
CA387553531 rs548405842 |
224 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs548405842 CA6914292 |
224 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs528255708 CA6914291 |
224 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1402243140 CA387553536 |
225 | E>Q | No |
ClinGen gnomAD |
|
CA246754451 rs935033821 |
226 | A>P | No |
ClinGen Ensembl |
|
CA6914293 rs150738256 |
230 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA387553573 rs150738256 |
230 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6914295 rs139669908 |
230 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6914294 rs139669908 |
230 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6914296 rs772539861 |
231 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1566194249 CA387553592 |
233 | H>R | No |
ClinGen Ensembl |
|
rs145196203 CA6914298 |
233 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
rs913130253 CA246754505 |
234 | C>* | No |
ClinGen TOPMed |
|
rs1029227077 CA246754511 |
236 | N>T | No |
ClinGen Ensembl |
|
CA387553645 rs1231290257 |
240 | M>L | No |
ClinGen gnomAD |
|
CA387553647 rs1255516315 |
240 | M>T | No |
ClinGen gnomAD |
|
rs1206130544 CA387553653 |
241 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs755374246 CA6914300 |
241 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6914303 rs371788710 |
243 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs568317408 CA6914301 |
243 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA246754537 rs1042925088 COSM293092 |
244 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs1431125002 CA387553712 |
246 | R>L | No |
ClinGen gnomAD |
|
rs1431125002 CA387553715 |
246 | R>Q | No |
ClinGen gnomAD |
|
rs777917933 CA6914304 |
246 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387553755 rs1438997383 |
248 | I>S | No |
ClinGen gnomAD |
|
rs927091620 CA246754546 |
249 | M>I | No |
ClinGen TOPMed |
|
rs1593501426 CA387553764 |
249 | M>L | No |
ClinGen Ensembl |
|
CA387553851 rs1156935581 |
253 | R>Q | No |
ClinGen gnomAD |
|
rs199614790 CA6914306 |
253 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6914308 rs375234139 |
257 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6914307 rs142300800 |
257 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6914309 rs768437129 |
261 | D>N | No |
ClinGen ExAC gnomAD |
|
rs764475375 CA246754630 |
262 | I>T | No |
ClinGen Ensembl |
|
rs1359568687 CA387554150 |
265 | G>S | No |
ClinGen Ensembl |
|
rs1309701296 CA387554172 |
266 | Y>C | No |
ClinGen gnomAD |
|
rs1320360967 CA387554182 |
267 | I>V | No |
ClinGen gnomAD |
|
CA6914326 rs776988973 |
268 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs748667154 CA6914327 |
271 | R>C | No |
ClinGen ExAC gnomAD |
|
rs531638025 CA6914328 |
271 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs531638025 CA6914329 |
271 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA387554250 rs1566195719 |
272 | K>E | No |
ClinGen Ensembl |
|
rs1483061251 CA387554312 |
274 | T>A | No |
ClinGen gnomAD |
|
CA6914332 rs746590103 |
276 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773003583 CA6914331 |
276 | M>K | No |
ClinGen ExAC gnomAD |
|
rs748371142 CA246755910 |
276 | M>V | No |
ClinGen Ensembl |
|
rs889855726 CA246755929 |
278 | T>N | No |
ClinGen Ensembl |
|
CA387554425 rs1593504034 |
278 | T>P | No |
ClinGen Ensembl |
|
rs145716754 CA6914335 |
279 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs145716754 CA6914334 |
279 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6914336 rs769518462 |
280 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1566195785 CA387554520 |
283 | A>T | No |
ClinGen Ensembl |
|
CA6914339 rs148921365 |
285 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA387554597 rs1417316034 |
287 | G>R | No |
ClinGen gnomAD |
|
rs762315531 CA6914341 |
289 | I>T | No |
ClinGen ExAC gnomAD |
|
CA246755978 rs766558345 |
291 | D>G | No |
ClinGen gnomAD |
|
rs777963759 CA246755990 |
297 | R>I | No |
ClinGen Ensembl |
|
rs1225736155 CA387554858 |
301 | K>R | No |
ClinGen gnomAD |
|
rs1273466371 CA387554873 |
303 | L>H | No |
ClinGen gnomAD |
|
rs375569975 CA246755996 |
306 | Q>H | No |
ClinGen ESP TOPMed |
|
rs756360388 CA6914344 |
310 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387554940 rs1593504233 |
312 | P>T | No |
ClinGen Ensembl |
|
rs1003715210 CA246756004 |
317 | I>T | No |
ClinGen Ensembl |
|
rs758116808 CA6914347 |
323 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777830854 CA6914348 |
323 | Q>L | No |
ClinGen ExAC gnomAD |
|
rs777440197 CA6914367 |
325 | Q>K | No |
ClinGen ExAC gnomAD |
|
rs751316498 CA6914368 |
325 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1441139808 CA387555110 |
327 | G>R | No |
ClinGen TOPMed |
|
CA6914369 rs757288229 |
329 | A>D | No |
ClinGen ExAC gnomAD |
|
CA6914371 rs745419856 |
333 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1346110428 CA387555150 |
333 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA387555156 rs1272647872 |
334 | Y>H | No |
ClinGen gnomAD |
|
rs1593506052 CA387555158 |
334 | Y>S | No |
ClinGen Ensembl |
|
rs1256386004 CA387555165 |
335 | C>S | No |
ClinGen TOPMed |
|
rs779821499 CA6914373 |
336 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387555190 rs1593506098 |
338 | H>P | No |
ClinGen Ensembl |
|
rs1335518351 CA387555188 |
338 | H>Y | No |
ClinGen TOPMed |
|
rs748908677 CA6914374 |
339 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387555204 rs1207985576 |
340 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs145134345 CA6914375 |
341 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6914376 rs774609819 |
342 | C>Y | No |
ClinGen ExAC gnomAD |
|
CA6914377 rs748515409 |
344 | E>A | No |
ClinGen ExAC gnomAD |
|
rs772619502 CA6914378 |
346 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772619502 CA246757412 |
346 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1471910422 CA387555245 |
347 | N>S | No |
ClinGen gnomAD |
|
CA387555251 rs1159004150 |
348 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs1160907247 CA387555261 |
349 | M>I | No |
ClinGen TOPMed |
|
rs760813325 CA6914380 |
349 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6914379 rs375500284 |
349 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
CA387555267 rs1321242287 |
350 | K>M | No |
ClinGen gnomAD |
|
CA246757433 rs947302803 |
356 | H>Y | No |
ClinGen Ensembl |
|
rs1348033947 CA387555354 |
362 | R>C | No |
ClinGen gnomAD |
|
CA387555366 rs1227720945 |
364 | L>P | No |
ClinGen gnomAD |
|
CA387555390 rs1439323626 |
367 | M>I | No |
ClinGen gnomAD |
|
rs1248162484 CA387555386 |
367 | M>L | No |
ClinGen gnomAD |
|
CA387555405 rs1182518732 |
369 | D>E | No |
ClinGen gnomAD |
|
rs765455230 CA6914384 |
369 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1043397044 CA246757439 |
370 | I>V | No |
ClinGen Ensembl |
|
CA6914386 COSM1266567 COSM1266566 rs138946174 |
371 | A>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs1223442521 CA387555420 |
372 | I>L | No |
ClinGen TOPMed gnomAD |
|
CA387555422 rs1271159246 |
372 | I>T | No |
ClinGen gnomAD |
|
CA387555418 rs1223442521 |
372 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs1181801456 CA387555429 |
373 | D>G | No |
ClinGen TOPMed gnomAD |
|
rs756059244 CA6914389 |
374 | G>R | No |
ClinGen ExAC |
|
CA6914390 rs779455250 |
374 | G>V | No |
ClinGen ExAC |
|
CA246757479 rs1057126282 |
381 | Q>* | No |
ClinGen Ensembl |
|
rs28624140 CA246757480 |
382 | K>E | No |
ClinGen Ensembl |
|
rs1461676815 CA387555602 |
386 | Y>H | No |
ClinGen gnomAD |
|
rs375839910 CA6914393 |
387 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6914392 rs754626684 |
387 | P>S | No |
ClinGen ExAC gnomAD |
|
rs772423715 CA6914395 |
389 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1408679634 CA387555688 |
392 | E>Q | No |
ClinGen gnomAD |
|
rs1593506439 CA387555726 |
395 | K>Q | No |
ClinGen Ensembl |
|
rs747524682 CA6914397 |
396 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs776601790 CA6914399 |
399 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6914400 rs150474130 |
400 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
rs138395874 CA6914403 |
402 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA387537548 rs1427578555 |
404 | Y>C | No |
ClinGen gnomAD |
|
rs148314715 CA6914424 |
406 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6914425 rs766288438 |
408 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA246715446 rs144501887 |
409 | A>G | No |
ClinGen ESP TOPMed gnomAD |
|
CA246715454 rs144501887 |
409 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
CA6914427 rs759328855 |
410 | A>V | No |
ClinGen ExAC gnomAD |
|
CA6914428 rs764821255 |
411 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA387537634 rs1164938558 |
412 | E>D | No |
ClinGen TOPMed |
|
rs1406618400 CA387537651 |
414 | M>T | No |
ClinGen TOPMed |
|
rs35793500 CA387537682 |
416 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA246715464 rs764210666 |
417 | V>A | No |
ClinGen Ensembl |
|
CA6914430 rs758074509 |
418 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758074509 CA387537691 |
418 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777370643 CA6914431 |
419 | C>R | No |
ClinGen ExAC gnomAD |
|
rs1328343163 CA387537721 |
421 | I>T | No |
ClinGen gnomAD |
|
rs770141276 CA246715482 |
424 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770141276 CA6914436 |
424 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6914437 COSM3793200 COSM3793201 COSM183525 rs777744409 |
424 | R>H | large_intestine urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA6914438 rs777744409 |
424 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1365984 CA387537768 rs1205426761 COSM1365985 |
425 | K>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA6914441 rs760457002 |
426 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs147201038 CA6914442 |
426 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA387537800 rs1429329093 |
429 | E>* | No |
ClinGen gnomAD |
|
CA6914444 rs759544607 |
430 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA246715504 rs966615109 |
430 | S>R | No |
ClinGen Ensembl |
|
CA387537821 rs1156783194 |
431 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA6914446 rs752240893 |
432 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762424477 CA6914447 |
433 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387537855 rs1387378056 |
434 | I>L | No |
ClinGen gnomAD |
|
rs201424215 CA6914448 |
434 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs140467795 CA6914449 |
436 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA246715523 rs886934434 |
436 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs886934434 CA246715525 |
436 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs1593511951 CA387537917 |
439 | V>G | No |
ClinGen Ensembl |
|
rs756792701 CA387537912 |
439 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6914450 rs756792701 |
439 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6914451 rs781629339 |
441 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6914453 COSM3955457 rs756684808 COSM3955458 COSM3955459 |
442 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA387538016 rs1490677896 |
443 | G>A | No |
ClinGen gnomAD |
|
rs1245094485 CA387538013 |
443 | G>C | No |
ClinGen TOPMed |
|
CA6914455 rs780686074 |
445 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6914484 rs142231073 |
447 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA246716537 rs924587870 |
452 | R>* | No |
ClinGen TOPMed |
|
rs767260316 CA6914487 |
452 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387539313 rs1460745773 |
453 | S>N | No |
ClinGen gnomAD |
|
CA387539335 rs1204028810 |
455 | E>D | No |
ClinGen gnomAD |
|
CA387539363 rs1244701171 |
458 | H>D | No |
ClinGen gnomAD |
|
CA6914489 rs760340043 |
463 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6914491 rs754210107 |
464 | K>T | No |
ClinGen ExAC gnomAD |
|
CA387539475 rs1469704444 |
468 | Q>E | No |
ClinGen gnomAD |
|
CA6914493 rs765626462 |
468 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1455849977 CA387539488 |
469 | G>D | No |
ClinGen gnomAD |
|
CA6914495 rs758392859 |
471 | S>N | No |
ClinGen ExAC gnomAD |
|
rs778120365 CA6914497 |
472 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA387539547 rs751732780 |
474 | R>G | No |
ClinGen ExAC gnomAD |
|
CA6914499 COSM1562337 COSM1562338 rs371749849 |
474 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA6914498 rs751732780 |
474 | R>W | No |
ClinGen ExAC gnomAD |
|
CA387539555 rs1566202143 |
475 | T>A | No |
ClinGen Ensembl |
|
CA6914500 rs145656991 |
475 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA387539631 rs1463323062 |
481 | H>R | No |
ClinGen gnomAD |
|
CA246716615 rs935000938 |
481 | H>Y | No |
ClinGen TOPMed gnomAD |
|
CA6914502 rs768629886 |
482 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA246716622 rs111499388 |
482 | Q>R | No |
ClinGen Ensembl |
|
CA246716627 rs1052503405 |
484 | V>L | No |
ClinGen TOPMed |
|
rs778704021 CA6914504 |
485 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6914507 rs185289809 |
492 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs139258444 CA6914508 |
492 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs770671632 CA6914509 |
493 | R>K | No |
ClinGen ExAC |
|
rs1318865646 CA387539777 |
495 | M>I | No |
ClinGen TOPMed |
|
rs1324790042 CA387539769 |
495 | M>V | No |
ClinGen gnomAD |
|
rs765827913 CA6914512 |
501 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA246716682 rs1001614874 |
503 | D>G | No |
ClinGen TOPMed gnomAD |
|
CA6914514 rs763447520 |
503 | D>N | No |
ClinGen ExAC gnomAD |
|
CA6914515 rs764093283 |
504 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1368602053 CA387539899 |
507 | M>L | No |
ClinGen gnomAD |
|
CA6914516 rs149993979 |
509 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA387539923 rs1285106073 |
510 | V>A | No |
ClinGen gnomAD |
|
rs1222971866 CA387539927 |
511 | D>G | No |
ClinGen TOPMed gnomAD |
|
CA6914517 rs757501827 |
511 | D>N | No |
ClinGen ExAC gnomAD |
|
CA6914518 rs781369878 |
512 | L>P | No |
ClinGen ExAC gnomAD |
|
CA246716698 rs145192781 |
513 | G>A | No |
ClinGen ESP TOPMed |
|
CA6914519 rs753692252 |
514 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387539941 rs753692252 |
514 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6914520 rs754726668 |
516 | R>C | No |
ClinGen ExAC gnomAD |
|
CA6914521 rs778704858 |
516 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6914525 rs746491345 |
517 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1271660342 CA387539977 |
519 | D>G | No |
ClinGen gnomAD |
|
CA387539987 rs1468964478 |
520 | C>* | No |
ClinGen gnomAD |
|
rs770751818 CA6914526 |
521 | N>D | No |
ClinGen ExAC gnomAD |
|
CA6914527 rs776406678 |
521 | N>S | No |
ClinGen ExAC gnomAD |
|
rs770055743 CA6914529 |
524 | V>M | No |
ClinGen ExAC gnomAD |
|
CA6914532 rs199770674 COSM183528 |
531 | V>I | large_intestine breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA387540089 rs1593515790 |
535 | T>I | No |
ClinGen Ensembl |
|
CA387540098 rs1242670318 |
537 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA387540099 rs1242670318 |
537 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA387540111 rs1305562720 |
538 | V>G | No |
ClinGen TOPMed |
|
rs750649425 CA6914536 |
539 | Y>F | No |
ClinGen ExAC gnomAD |
|
rs756303982 CA6914537 |
542 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6914539 rs752500167 |
543 | A>V | No |
ClinGen ExAC gnomAD |
|
CA387540148 rs1318721228 |
544 | K>E | No |
ClinGen TOPMed |
|
rs776128198 CA246716789 |
545 | K>N | No |
ClinGen Ensembl |
|
rs886802848 CA246716793 |
546 | Q>H | No |
ClinGen Ensembl |
|
CA387540181 rs1251338091 |
548 | D>V | No |
ClinGen gnomAD |
|
CA387540196 rs113723819 |
550 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA246716796 rs113723819 |
550 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA387540199 rs1181643143 |
551 | R>K | No |
ClinGen gnomAD |
|
rs1233820442 CA387540215 |
553 | L>Q | No |
ClinGen gnomAD |
|
rs1566202667 CA387540222 |
554 | Q>R | No |
ClinGen Ensembl |
|
rs758310897 CA6914540 |
555 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1176137002 CA387540234 |
556 | C>Y | No |
ClinGen TOPMed |
|
CA246716801 rs1003862805 |
557 | A>T | No |
ClinGen TOPMed |
|
rs777835504 CA6914541 |
558 | D>V | No |
ClinGen ExAC gnomAD |
|
CA6914543 rs756818873 |
562 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1377491240 CA387540274 |
562 | R>W | No |
ClinGen TOPMed |
|
CA387540282 rs1593515982 |
563 | V>G | No |
ClinGen Ensembl |
|
CA387540311 rs1409308979 |
567 | K>N | No |
ClinGen gnomAD |
|
CA6914544 rs141312904 |
567 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6914545 rs141312904 |
567 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1222166962 CA387540358 |
572 | E>K | No |
ClinGen gnomAD |
|
rs1462043940 CA387540394 |
576 | N>K | No |
ClinGen gnomAD |
|
rs1175226422 COSM404034 CA387540399 |
577 | Q>R | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs748679247 CA6914569 |
581 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1566204368 CA387540436 |
582 | M>I | No |
ClinGen Ensembl |
|
CA6914572 rs773323858 |
586 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs760790234 CA6914573 |
587 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6914574 rs766572942 |
588 | A>E | No |
ClinGen ExAC gnomAD |
|
CA387540474 rs1479425057 |
588 | A>T | No |
ClinGen gnomAD |
|
rs776903993 CA6914575 |
590 | H>P | No |
ClinGen ExAC gnomAD |
|
rs759606721 CA6914576 |
591 | G>E | No |
ClinGen ExAC gnomAD |
|
CA387540670 rs1179550409 |
597 | N>S | No |
ClinGen gnomAD |
|
rs369378402 CA6914598 |
598 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1442965467 CA387540683 |
599 | C>Y | No |
ClinGen gnomAD |
|
rs1425794098 CA387540689 |
600 | P>A | No |
ClinGen TOPMed |
|
CA6914600 rs767621545 |
601 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1462716861 CA387540703 |
602 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA387540710 rs1202934482 |
603 | P>L | No |
ClinGen TOPMed |
|
rs1165017447 CA387540705 |
603 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA246719571 rs766100648 |
604 | P>L | No |
ClinGen gnomAD |
|
CA6914605 rs753245659 |
606 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1048725200 CA246719611 |
611 | I>F | No |
ClinGen TOPMed |
|
rs1270415344 CA387540761 |
611 | I>M | No |
ClinGen Ensembl |
|
CA246719615 rs889622258 |
612 | H>R | No |
ClinGen TOPMed |
|
rs758752942 COSM1365989 COSM1365988 CA6914609 |
614 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA6914610 rs574642354 |
614 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs771296388 CA6914612 |
618 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387540817 rs1480860593 |
620 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA246719629 rs372421924 |
621 | S>N | No |
ClinGen gnomAD |
|
CA387540825 rs372421924 |
621 | S>T | No |
ClinGen gnomAD |
|
rs745913840 CA6914614 |
622 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387540838 rs1291549491 |
623 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs775843017 CA6914616 |
626 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs1169010015 CA387540861 |
626 | Q>H | No |
ClinGen gnomAD |
|
rs1348407704 CA387540867 |
627 | V>A | No |
ClinGen TOPMed |
|
CA6914617 rs749454221 |
630 | L>M | No |
ClinGen ExAC gnomAD |
|
rs1593522051 CA387540886 |
630 | L>R | No |
ClinGen Ensembl |
|
CA6914619 rs771913988 |
631 | A>G | No |
ClinGen ExAC gnomAD |
|
CA246719638 rs1030752431 |
631 | A>T | No |
ClinGen gnomAD |
|
CA6914618 rs771913988 |
631 | A>V | No |
ClinGen ExAC gnomAD |
|
rs766192666 CA6914621 |
634 | K>E | No |
ClinGen ExAC gnomAD |
|
rs759208554 CA6914623 |
638 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776250969 CA6914622 |
638 | S>T | No |
ClinGen ExAC gnomAD |
|
rs752355550 CA6914625 |
642 | H>R | No |
ClinGen ExAC gnomAD |
|
rs1220330423 CA387540981 |
645 | N>D | No |
ClinGen gnomAD |
|
rs143829548 CA6914626 |
645 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA387540996 rs1238243877 |
647 | L>H | No |
ClinGen gnomAD |
|
rs751832948 CA6914628 |
647 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA387540994 rs751832948 |
647 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs969190256 CA246719702 |
648 | T>N | No |
ClinGen TOPMed gnomAD |
|
rs376254629 CA6914629 |
649 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6914631 rs376254629 |
649 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs376254629 CA6914630 |
649 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6914633 rs200138957 |
651 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6914632 rs756258666 |
651 | R>W | No |
ClinGen ExAC gnomAD |
|
rs749542130 CA6914634 |
652 | K>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with Q96N96
Functions
Description | ||
---|---|---|
EC Number | ||
Subcellular Localization |
|
|
PANTHER Family | PTHR47544 | RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 4 |
PANTHER Subfamily | PTHR47544:SF2 | RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 9 |
PANTHER Protein Class |
guanyl-nucleotide exchange factor
G-protein modulator protein-binding activity modulator |
|
PANTHER Pathway Category | No pathway information available |
6 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. |
filopodium | Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft. |
lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
ruffle membrane | The portion of the plasma membrane surrounding a ruffle. |
2 GO annotations of molecular function
Name | Definition |
---|---|
guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
identical protein binding | Binding to an identical protein or proteins. |
5 GO annotations of biological process
Name | Definition |
---|---|
cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
filopodium assembly | The assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone. |
lamellipodium assembly | Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell. |
regulation of cell migration | Any process that modulates the frequency, rate or extent of cell migration. |
regulation of small GTPase mediated signal transduction | Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
12 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q58DL7 | ARHGEF9 | Rho guanine nucleotide exchange factor 9 | Bos taurus (Bovine) | SS |
Q70Z35 | PREX2 | Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein | Homo sapiens (Human) | SS |
Q6XZF7 | DNMBP | Dynamin-binding protein | Homo sapiens (Human) | PR |
Q9NR80 | ARHGEF4 | Rho guanine nucleotide exchange factor 4 | Homo sapiens (Human) | EV |
A1IGU5 | ARHGEF37 | Rho guanine nucleotide exchange factor 37 | Homo sapiens (Human) | PR |
Q8TCU6 | PREX1 | Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein | Homo sapiens (Human) | EV |
O43307 | ARHGEF9 | Rho guanine nucleotide exchange factor 9 | Homo sapiens (Human) | SS |
Q3LAC4 | Prex2 | Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein | Mus musculus (Mouse) | SS |
Q7TNR9 | Arhgef4 | Rho guanine nucleotide exchange factor 4 | Mus musculus (Mouse) | EV |
Q69ZK0 | Prex1 | Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein | Mus musculus (Mouse) | SS |
Q3UTH8 | Arhgef9 | Rho guanine nucleotide exchange factor 9 | Mus musculus (Mouse) | SS |
Q5DU57 | Spata13 | Spermatogenesis-associated protein 13 | Mus musculus (Mouse) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MTSASPEDQN | APVGCPKGAR | RRRPISVIGG | VSLYGTNQTE | ELDNLLTQPA | SRPPMPAHQV |
70 | 80 | 90 | 100 | 110 | 120 |
PPYKAVSARF | RPFTFSQSTP | IGLDRVGRRR | QMRASNVSSD | GGTEPSALVD | DNGSEEDFSY |
130 | 140 | 150 | 160 | 170 | 180 |
EDLCQASPRY | LQPGGEQLAI | NELISDGNVV | CAEALWDHVT | MDDQELGFKA | GDVIQVLEAS |
190 | 200 | 210 | 220 | 230 | 240 |
NKDWWWGRSE | DKEAWFPASF | VRLRVNQEEL | SENSSSTPSE | EQDEEASQSR | HRHCENKQQM |
250 | 260 | 270 | 280 | 290 | 300 |
RTNVIREIMD | TERVYIKHLR | DICEGYIRQC | RKHTGMFTVA | QLATIFGNIE | DIYKFQRKFL |
310 | 320 | 330 | 340 | 350 | 360 |
KDLEKQYNKE | EPHLSEIGSC | FLQNQEGFAI | YSEYCNNHPG | ACLELANLMK | QGKYRHFFEA |
370 | 380 | 390 | 400 | 410 | 420 |
CRLLQQMIDI | AIDGFLLTPV | QKICKYPLQL | AELLKYTTQE | HGDYSNIKAA | YEAMKNVACL |
430 | 440 | 450 | 460 | 470 | 480 |
INERKRKLES | IDKIARWQVS | IVGWEGLDIL | DRSSELIHSG | ELTKITKQGK | SQQRTFFLFD |
490 | 500 | 510 | 520 | 530 | 540 |
HQLVSCKKDL | LRRDMLYYKG | RLDMDEMELV | DLGDGRDKDC | NLSVKNAFKL | VSRTTDEVYL |
550 | 560 | 570 | 580 | 590 | 600 |
FCAKKQEDKA | RWLQACADER | RRVQEDKEMG | MEISENQKKL | AMLNAQKAGH | GKSKGYNRCP |
610 | 620 | 630 | 640 | 650 | |
VAPPHQGLHP | IHQRHITMPT | SVPQQQVFGL | AEPKRKSSLF | WHTFNRLTPF | RK |