Q9Y2J0
PR
Gene name |
RPH3A (KIAA0985) |
Protein name |
Rabphilin-3A |
Names |
Exophilin-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:22895 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9Y2J0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y2J0-F1 | Predicted | AlphaFoldDB |
582 variants for Q9Y2J0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA386782635 rs1461479267 |
2 | T>S | No |
ClinGen TOPMed |
|
|
rs768750424 CA6798878 |
4 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6798880 rs748362931 |
5 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386782685 rs1338407395 |
6 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386782729 rs1593052435 |
9 | S>C | No |
ClinGen Ensembl |
|
|
CA6798881 rs769629886 |
9 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs933855456 CA243724359 |
10 | S>C | No |
ClinGen Ensembl |
|
|
CA386782758 rs1335843949 |
11 | N>I | No |
ClinGen gnomAD |
|
|
rs1218593842 CA386782764 |
11 | N>K | No |
ClinGen gnomAD |
|
|
CA6798883 rs535623413 |
12 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6798882 rs535623413 |
12 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139903605 CA6798884 COSM1561831 |
12 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs139903605 CA386782773 |
12 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386782787 rs1479974838 |
13 | W>C | No |
ClinGen TOPMed |
|
|
CA6798885 rs774462717 |
13 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA386782801 rs1440924131 |
14 | M>I | No |
ClinGen gnomAD |
|
|
rs775430719 CA6798886 |
14 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760366872 CA6798887 |
15 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6798889 rs143393392 |
16 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386782836 rs1168248249 |
17 | S>G | No |
ClinGen gnomAD |
|
|
rs145608790 CA6798892 |
19 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369903047 CA6798891 |
19 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243724384 rs1001449758 |
22 | Q>H | No |
ClinGen gnomAD |
|
|
CA386782952 rs1205141488 |
22 | Q>R | No |
ClinGen gnomAD |
|
|
CA386785954 rs1227888406 |
26 | K>E | No |
ClinGen gnomAD |
|
|
rs1291224643 CA386785979 |
27 | E>K | No |
ClinGen gnomAD |
|
|
CA386786006 rs1223621269 |
28 | Q>P | No |
ClinGen TOPMed |
|
|
rs775500905 CA386789192 |
29 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6798929 rs775500905 |
29 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386789223 rs1454891719 |
31 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 32 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386789284 rs1593076753 |
34 | S>A | No |
ClinGen Ensembl |
|
|
CA386789293 rs746459168 |
34 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6798930 rs746459168 |
34 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 35 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142788762 CA243736409 |
35 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6798932 rs142788762 |
35 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766719831 CA6798934 |
36 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs151025880 CA6798933 |
36 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374085633 CA6798935 |
37 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6798936 rs374085633 |
37 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1438537700 CA386789340 |
37 | P>S | No |
ClinGen gnomAD |
|
|
rs567764337 CA6798938 |
38 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6798939 rs756126635 |
39 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA386789446 rs1352380336 |
42 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1361405781 CA386789501 |
44 | Q>* | No |
ClinGen TOPMed |
|
|
rs146502002 CA6798940 |
45 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6798941 rs754109942 |
49 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA6798942 rs757609306 |
49 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 50 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243736442 rs900224849 |
51 | T>A | No |
ClinGen Ensembl |
|
|
rs556612058 CA6798943 |
51 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745591112 CA6798944 |
52 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA386789666 rs1468997998 |
52 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA386789669 rs1468997998 |
52 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs373466378 CA6798946 |
60 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6798947 rs147908377 |
60 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6798948 rs768017786 |
61 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747673648 CA6798950 |
63 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs950652719 CA386789882 |
64 | R>* | No |
ClinGen gnomAD |
|
|
CA386789886 rs1390375090 |
64 | R>Q | No |
ClinGen gnomAD |
|
|
CA386790021 rs1407143114 |
70 | E>D | No |
ClinGen TOPMed |
|
|
CA243736492 rs559216823 |
70 | E>G | No |
ClinGen Ensembl |
|
|
rs376863444 CA6798951 |
71 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386790030 rs376863444 |
71 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 73 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs540323896 CA243736500 |
74 | E>G | No |
ClinGen Ensembl |
|
|
CA386790084 rs1337171653 |
74 | E>K | No |
ClinGen gnomAD |
|
|
CA243736514 rs199745913 |
75 | R>* | No |
ClinGen gnomAD |
|
|
COSM467818 rs772886838 CA6798954 |
75 | R>Q | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| rs1418666688 | 76 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747575457 CA243736532 |
77 | G>E | No |
ClinGen gnomAD |
|
|
RCV001193517 rs375430419 CA6798955 |
77 | G>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6798972 COSM1179414 rs200716212 |
78 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs749010110 CA6798973 COSM164097 |
78 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs760958781 CA6798976 |
80 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6798975 rs757330060 |
80 | V>M | No |
ClinGen ExAC gnomAD |
|
|
COSM3687965 rs769217929 CA6798978 |
82 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6798979 rs141736304 COSM374124 |
82 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs769217929 CA6798977 |
82 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342945269 CA386795425 |
88 | K>R | No |
ClinGen TOPMed |
|
|
rs1229317710 CA386795450 |
90 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6798981 rs750575876 |
91 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 92 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763299292 CA6798982 |
93 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1381863212 CA386795507 |
95 | V>A | No |
ClinGen TOPMed |
|
|
rs1381863212 CA386795509 |
95 | V>G | No |
ClinGen TOPMed |
|
| TCGA novel | 96 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6798984 rs200472051 |
97 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199724124 CA6798986 |
97 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6798985 rs200472051 |
97 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6798987 rs752680661 |
99 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1305650282 CA386795567 |
100 | L>V | No |
ClinGen TOPMed |
|
|
rs1263844572 CA386795600 |
103 | E>Q | No |
ClinGen gnomAD |
|
|
CA6798988 rs755591238 |
104 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1192465817 CA386795641 |
106 | G>E | No |
ClinGen gnomAD |
|
|
CA386795662 rs1411183854 |
108 | L>M | No |
ClinGen TOPMed |
|
|
CA6798989 rs777333598 |
108 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA386795673 rs1370629540 |
109 | G>R | No |
ClinGen TOPMed |
|
|
rs770558677 CA6798991 |
110 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 111 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6798992 rs778434297 |
113 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1565928722 CA386796091 |
115 | C>S | No |
ClinGen Ensembl |
|
|
rs1387785097 CA386796113 |
116 | E>D | No |
ClinGen gnomAD |
|
|
rs1436388382 CA386796115 |
117 | D>N | No |
ClinGen gnomAD |
|
|
rs1565928753 CA386796132 |
118 | C>S | No |
ClinGen Ensembl |
|
|
rs748649627 CA6799034 |
121 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA6799036 rs538011020 |
121 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6799037 rs555846302 |
122 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1463417169 CA386796436 |
124 | T>S | No |
ClinGen gnomAD |
|
|
CA6799039 rs372928258 |
127 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386796513 rs1593102893 |
128 | V>G | No |
ClinGen Ensembl |
|
|
CA386796505 rs1300152899 |
128 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA243746644 rs764003900 |
130 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA386796602 rs1246009194 |
132 | N>K | No |
ClinGen gnomAD |
|
|
CA386796599 rs76232509 |
132 | N>S | No |
ClinGen Ensembl |
|
|
rs76232509 CA243746646 |
132 | N>T | No |
ClinGen Ensembl |
|
|
rs775209653 CA6799042 |
133 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs148899308 CA6799043 COSM3752922 |
133 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs775209653 CA386796607 |
133 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs567474017 CA6799045 |
134 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373427942 CA386796648 |
135 | H>R | No |
ClinGen TOPMed |
|
|
CA6799046 rs756769080 |
136 | S>T | No |
ClinGen ExAC |
|
|
rs764689913 CA6799047 |
137 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA386796781 rs1593102975 |
143 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA386796792 rs1434187311 |
144 | I>T | No |
ClinGen TOPMed |
|
|
CA386797618 rs1440608662 |
149 | V>E | No |
ClinGen TOPMed |
|
|
CA6799072 rs149650638 |
152 | R>C | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6799073 rs757648559 |
152 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1241531492 CA386797686 |
154 | G>V | No |
ClinGen gnomAD |
|
|
rs946202287 CA243748077 COSM1358908 |
155 | A>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1220242187 CA386797716 |
156 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6799076 rs376224827 |
161 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1211081367 CA386797812 |
163 | K>R | No |
ClinGen gnomAD |
|
|
rs1417161816 CA386797826 |
164 | Q>P | No |
ClinGen TOPMed |
|
|
rs780226067 CA6799077 |
166 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA386797854 rs1252424369 |
167 | P>S | No |
ClinGen TOPMed |
|
|
CA386797885 rs1179086556 |
169 | P>R | No |
ClinGen TOPMed |
|
|
rs776343664 CA6799080 |
170 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6799079 rs768489370 |
170 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs768489370 CA386797892 |
170 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA386797910 rs1478442608 |
171 | P>L | No |
ClinGen gnomAD |
|
|
rs544504128 CA386797912 CA6799081 |
172 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386797917 rs1405466259 |
172 | I>M | No |
ClinGen gnomAD |
|
|
rs544504128 CA243748133 |
172 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 173 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458778323 CA386797949 |
175 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1159866072 CA386797957 |
176 | K>E | No |
ClinGen gnomAD |
|
|
CA386797975 COSM3416503 rs1593105256 |
177 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs137855588 CA6799082 |
177 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs137855588 CA386797969 |
177 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773307924 CA6799083 |
178 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6799084 rs762533530 |
179 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA386798004 rs1319310664 |
180 | P>T | No |
ClinGen TOPMed |
|
|
rs1440947123 CA386798012 |
181 | V>F | No |
ClinGen gnomAD |
|
|
CA386798056 rs1308329860 |
184 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1279369551 CA386798079 |
186 | A>D | No |
ClinGen gnomAD |
|
|
CA243748179 rs947809876 |
186 | A>S | No |
ClinGen TOPMed |
|
|
rs1279369551 CA386798083 |
186 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1349036815 CA386798085 |
187 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs759168959 CA6799087 |
188 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs752527345 CA6799088 |
191 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142374483 CA6799090 |
192 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754086996 CA6799089 |
192 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 193 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377555989 CA6799092 |
195 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377555989 CA6799091 |
195 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386798198 rs1231369436 |
196 | H>R | No |
ClinGen gnomAD |
|
|
CA6799093 rs758438780 |
197 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6799095 rs145959125 |
199 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6799094 rs780171130 |
199 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768702346 CA6799096 |
200 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6799097 rs371005298 |
201 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6799098 rs374290643 |
202 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs769761490 CA386798267 |
203 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA6799099 rs769761490 |
203 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6799100 rs113019698 COSM223599 RCV000969275 |
203 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA243749032 rs201228672 |
206 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs201228672 CA386799010 |
206 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6799119 rs576092129 |
212 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386799152 rs576092129 |
212 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386799145 rs1391422086 |
212 | P>S | No |
ClinGen gnomAD |
|
|
rs924513696 CA243749043 |
213 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA386799189 rs1464912475 |
214 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs745314704 CA6799121 |
215 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 216 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779668181 | 217 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386799325 rs1325227198 |
217 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6799123 rs774971449 |
217 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386799234 rs774971449 |
217 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301753885 CA386799360 |
219 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1301753885 CA386799361 |
219 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs867127827 CA243749172 |
219 | D>N | No |
ClinGen Ensembl |
|
|
CA6799142 rs768230622 |
220 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA386799370 rs768230622 |
220 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA386799442 rs771368523 |
224 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6799145 rs771368523 |
224 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs139152687 CA6799148 CA6799147 |
225 | G>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA386799452 rs139152687 |
225 | G>W | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA6799149 rs752762635 |
226 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs780578050 CA6799150 |
226 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396090284 CA386799469 |
227 | G>R | No |
ClinGen TOPMed |
|
|
CA6799152 rs754165001 |
229 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6799151 rs144758251 |
229 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1348156728 CA386799539 |
230 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1348156728 CA386799537 |
230 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA386799530 rs1164327966 CA386799533 |
230 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs374869588 CA243749225 |
231 | P>L | No |
ClinGen ESP |
|
|
CA386799548 rs1294387266 |
231 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6799156 rs758294722 |
233 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs145114678 CA6799157 COSM935290 |
234 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs746482059 CA6799158 |
234 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768175767 CA6799160 |
236 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768175767 CA6799159 |
236 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM300808 rs140680955 CA6799162 |
238 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA386799698 rs745320677 |
240 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772596187 CA6799165 |
240 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs144656378 CA243749388 |
241 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs373196382 CA243749366 |
241 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1449189548 CA386799740 |
242 | S>T | No |
ClinGen TOPMed |
|
|
rs986628159 CA243749409 |
244 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6799167 rs760818180 |
246 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760818180 CA386799806 |
246 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6799168 COSM135611 rs147898060 |
246 | R>Q | skin breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs201082152 CA6799169 |
247 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 248 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565931957 CA386799866 |
250 | S>N | No |
ClinGen Ensembl |
|
|
CA386799894 TCGA novel rs1176405770 |
251 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
CA386799886 rs1309648203 |
251 | W>L | No |
ClinGen gnomAD |
|
|
rs563388762 CA386799911 |
252 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1370897032 CA386799905 |
252 | D>G | No |
ClinGen gnomAD |
|
|
rs375588972 CA243749436 |
253 | H>N | No |
ClinGen TOPMed |
|
|
rs758157549 CA6799173 |
254 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6799175 rs147818920 |
255 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6799174 RCV000986161 rs779991033 |
255 | G>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA243749485 rs993655050 |
256 | G>C | No |
ClinGen Ensembl |
|
|
CA6799177 rs780740367 |
257 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1358910 rs1294164894 CA386799974 |
257 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1210317438 CA386799988 |
258 | G>R | No |
ClinGen TOPMed |
|
|
CA243749508 rs914617955 |
260 | S>C | No |
ClinGen TOPMed |
|
|
CA6799180 rs368311022 |
262 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs552230104 CA6799179 |
262 | R>W | Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6799182 rs746199452 |
265 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6799181 rs746199452 |
265 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747582874 CA6799184 |
266 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA386800073 rs747582874 |
266 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs143758997 CA6799197 |
267 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs903350107 CA243715784 |
268 | R>K | No |
ClinGen TOPMed |
|
|
rs373497170 CA6799199 |
269 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6799198 rs760123095 |
269 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386777816 rs1465800544 |
270 | A>S | No |
ClinGen TOPMed |
|
|
rs200227679 CA6799200 |
272 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6799201 rs747386839 |
273 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6799202 rs769215936 |
274 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1363778255 CA386777953 |
275 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6799203 rs777308258 |
275 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1593114029 CA386777977 |
277 | R>G | No |
ClinGen Ensembl |
|
|
rs1433796427 CA386778020 |
278 | P>L | No |
ClinGen gnomAD |
|
|
rs1369811595 CA386778004 |
278 | P>T | No |
ClinGen gnomAD |
|
|
CA6799206 rs543613545 |
280 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386778066 rs1370233641 |
281 | G>S | No |
ClinGen gnomAD |
|
|
rs1220158799 CA386778082 |
281 | G>V | No |
ClinGen gnomAD |
|
|
rs200889610 CA6799207 |
282 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386778123 rs1210685373 |
283 | V>E | No |
ClinGen gnomAD |
|
|
CA386778139 rs1482776896 |
284 | Q>R | No |
ClinGen TOPMed |
|
|
rs1268798788 CA386778170 |
285 | S>N | No |
ClinGen gnomAD |
|
|
rs1593114141 CA386778222 |
286 | P>Q | No |
ClinGen Ensembl |
|
|
rs533449927 CA6799210 |
287 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA243715899 rs970833229 |
289 | P>L | No |
ClinGen gnomAD |
|
|
CA386778334 rs1409663544 |
290 | Q>* | No |
ClinGen gnomAD |
|
|
rs755622239 CA6799213 |
290 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA386778418 rs1276101895 |
292 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs2189473 CA6799215 |
293 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375690047 CA6799216 |
294 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 295 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234310813 CA386778801 |
297 | P>T | No |
ClinGen TOPMed |
|
|
rs150263072 CA243716415 |
298 | G>A | No |
ClinGen ESP |
|
|
rs1364379339 CA386778848 |
299 | G>E | No |
ClinGen TOPMed |
|
|
CA6799235 rs764932933 |
299 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 300 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1663964 CA386778923 rs1340387856 |
302 | P>L | kidney Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA243716428 rs768613767 |
302 | P>T | No |
ClinGen Ensembl |
|
|
CA386778969 rs1285968254 |
304 | P>H | No |
ClinGen gnomAD |
|
|
CA6799237 rs755361659 |
305 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 305 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6799238 rs780920281 |
309 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139024020 CA6799239 |
309 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386779060 rs756513147 |
310 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA6799240 rs756513147 |
310 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs867444116 CA243716470 |
311 | P>S | No |
ClinGen Ensembl |
|
|
CA386779104 rs1205594445 |
313 | Q>E | No |
ClinGen gnomAD |
|
|
CA6799252 rs761384824 |
316 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1052727757 CA243717019 |
318 | A>G | No |
ClinGen Ensembl |
|
|
rs181603690 CA6799253 |
319 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6799256 rs371793265 |
320 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243717052 rs144619056 |
320 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM233279 CA6799258 rs756524686 |
321 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs928790893 CA386780170 |
322 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA243717077 rs928790893 |
322 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA386780169 rs928790893 |
322 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs138588391 CA6799259 |
323 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6799260 rs754386427 |
325 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA386780243 rs779024797 |
326 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs779024797 CA6799262 |
326 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs371739466 CA6799265 |
328 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386780255 rs1328306669 |
328 | P>S | No |
ClinGen gnomAD |
|
|
CA386780256 rs1328306669 |
328 | P>T | No |
ClinGen gnomAD |
|
|
COSM1358911 CA6799266 rs746728163 |
329 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6799267 rs768544460 |
329 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA6799268 rs776678218 |
330 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
| TCGA novel | 331 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6799269 rs748161293 |
331 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs371903255 CA243717191 |
333 | T>R | No |
ClinGen gnomAD |
|
|
CA243717195 rs1018694886 |
334 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 334 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386780318 rs1430615238 |
335 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs867344206 CA243717196 |
335 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386780328 rs1593116281 |
336 | V>G | No |
ClinGen Ensembl |
|
|
CA6799271 rs144497607 COSM692034 |
337 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| TCGA novel | 338 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758776054 CA243717219 |
338 | G>D | No |
ClinGen Ensembl |
|
|
CA6799273 rs765898338 |
339 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774103126 CA6799274 |
340 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs760919953 CA6799275 |
341 | A>G | No |
ClinGen ExAC |
|
|
CA6799276 rs764589701 |
342 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA386780435 rs1245125420 |
344 | A>D | No |
ClinGen gnomAD |
|
|
rs1283615372 CA386780466 |
345 | R>K | No |
ClinGen gnomAD |
|
|
CA6799277 rs754333386 |
346 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA243717237 rs868203770 |
347 | D>N | No |
ClinGen Ensembl |
|
|
CA386780622 rs765734866 |
348 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6799279 rs765734866 |
348 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6799280 rs750458284 |
349 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1317042378 CA386780648 |
349 | M>K | No |
ClinGen gnomAD |
|
|
CA6799281 rs201830542 |
350 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 351 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386780695 rs1489219685 |
351 | H>Y | No |
ClinGen gnomAD |
|
|
CA386780714 rs1225204365 |
352 | P>S | No |
ClinGen gnomAD |
|
|
rs993551177 CA243717283 |
354 | G>E | No |
ClinGen Ensembl |
|
|
CA6799283 COSM1322002 rs370825883 CA243717277 |
354 | G>R | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD NCI-TCGA |
|
CA243717286 rs996589968 |
355 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 355 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867320077 CA243717301 |
357 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs867580664 CA243717311 |
358 | Q>* | No |
ClinGen Ensembl |
|
|
CA243717315 rs1026258418 |
359 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs747969214 CA6799286 |
360 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6799287 rs769814617 |
362 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6799290 rs190414097 |
363 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6799292 rs748727031 |
364 | P>L | No |
ClinGen ExAC TOPMed |
|
|
rs770516032 CA6799294 |
365 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770516032 CA6799293 |
365 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6799295 rs759293425 |
366 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA386781201 rs1193074362 |
367 | A>G | No |
ClinGen TOPMed |
|
|
rs1255398687 CA386781214 |
368 | A>V | No |
ClinGen TOPMed |
|
|
rs776917007 CA6799297 |
370 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6799298 rs200996653 |
370 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386781246 rs200996653 |
370 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386781286 rs970573148 |
372 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA243717414 rs970573148 |
372 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6799299 rs541230100 |
374 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA386781321 rs1403581440 |
374 | P>S | No |
ClinGen TOPMed |
|
|
rs762909268 CA6799301 |
375 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs373109708 CA6799300 |
375 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386781334 rs373109708 |
375 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243717495 rs1022761761 |
379 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs755170033 CA6799304 |
382 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345686774 CA386781525 |
382 | A>T | No |
ClinGen TOPMed |
|
|
rs781597496 CA6799305 |
383 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1324918924 CA386781634 |
386 | D>A | No |
ClinGen Ensembl |
|
|
rs1164505448 CA386781631 |
386 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6799307 rs756024491 |
387 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386781689 rs1170180191 |
389 | E>D | No |
ClinGen gnomAD |
|
|
CA386781701 rs1355051021 |
390 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs779646743 CA6799331 |
392 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1218996109 CA386782572 |
394 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1299906140 CA386782576 |
395 | A>T | No |
ClinGen gnomAD |
|
|
rs148026901 CA243719360 |
396 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1326198503 CA386782606 |
399 | S>I | No |
ClinGen gnomAD |
|
|
CA386782638 rs1451116492 |
402 | Y>H | No |
ClinGen gnomAD |
|
|
rs763230279 CA6799335 |
403 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs202194176 CA243719373 |
403 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202194176 CA6799334 |
403 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202194176 CA243719375 |
403 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774769263 CA6799337 |
405 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386782680 rs1242895469 |
405 | D>N | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201512087 CA6799338 |
407 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200556018 CA6799339 |
407 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6799340 rs775845098 COSM1511127 |
410 | Q>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA243719425 rs940781093 |
413 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA243719435 rs199667978 |
414 | I>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA6799366 rs751028142 |
421 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6799367 rs754532064 |
424 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs747823217 CA6799369 |
426 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 427 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6799371 rs368476874 |
432 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386784930 rs1030032722 |
435 | H>P | No |
ClinGen TOPMed |
|
|
CA243721675 rs1030032722 |
435 | H>R | No |
ClinGen TOPMed |
|
|
CA386785054 rs1412088902 |
438 | P>L | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA243721681 rs999288406 |
439 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA386785073 rs999288406 |
439 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs762234002 CA243723078 |
447 | R>C | No |
ClinGen Ensembl |
|
|
rs368853756 CA6799400 |
447 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 447 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6799402 rs759336637 |
449 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs869312710 CA354959 RCV000209913 |
450 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| TCGA novel | 451 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767497432 CA6799403 COSM76285 |
452 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA386786523 COSM1127562 rs1430121018 |
452 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs78910226 CA243723100 |
453 | N>D | No |
ClinGen 1000Genomes |
|
|
rs760257914 CA386786582 |
455 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6799406 rs763820841 COSM935291 |
455 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs760257914 CA6799405 |
455 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA243723162 rs373673211 |
456 | N>K | No |
ClinGen Ensembl |
|
|
CA243723166 rs1053158009 |
458 | I>N | No |
ClinGen TOPMed |
|
| TCGA novel | 459 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 461 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758828228 CA6799409 |
462 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758828228 CA6799408 |
462 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs941902023 CA243723188 |
463 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA243723197 rs1044243554 |
463 | L>P | No |
ClinGen Ensembl |
|
|
rs35555961 CA6799412 |
464 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6799413 rs35555961 |
464 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1593125901 CA386786823 |
466 | H>Y | No |
ClinGen Ensembl |
|
|
CA6799415 rs777967398 |
467 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1485956682 CA386786857 |
468 | I>V | No |
ClinGen gnomAD |
|
|
rs1206116485 CA386786892 |
469 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6799418 rs771156884 |
470 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM935292 CA6799417 rs771156884 |
470 | D>N | Variant assessed as Somatic; 0.0 impact. skin endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA386786972 rs745709109 |
473 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6799419 rs745709109 |
473 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6799420 rs771858502 |
475 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760076844 CA6799422 |
477 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA386787065 rs760076844 |
477 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA386787071 rs763759280 |
478 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6799423 rs763759280 |
478 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6799445 rs780022678 |
482 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6799447 rs753017054 |
487 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs374804150 CA6799448 |
487 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386787996 rs4141253 |
488 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368647822 CA243726341 |
489 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
CA386788003 rs1565944731 |
489 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 493 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6799450 rs753868235 |
496 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757379407 CA6799451 |
497 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1377018220 CA386788150 |
499 | F>L | No |
ClinGen TOPMed |
|
|
rs750729333 CA6799453 |
499 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA386788160 rs1355037452 |
500 | S>C | No |
ClinGen gnomAD |
|
|
rs758110662 CA6799454 |
502 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6799455 rs777479096 |
503 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243726408 rs76149484 |
506 | P>T | No |
ClinGen 1000Genomes |
|
|
CA386788252 rs1296384835 |
507 | N>S | No |
ClinGen gnomAD |
|
|
rs1400203086 CA386788249 |
507 | N>Y | No |
ClinGen TOPMed |
|
|
CA386788282 rs1168985423 |
508 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs577981426 CA6799456 |
509 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747638098 CA6799459 |
512 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs769386460 CA6799460 |
514 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs754697564 CA243726455 |
516 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs754697564 CA6799461 |
516 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1204604411 CA386788518 |
517 | E>Q | No |
ClinGen gnomAD |
|
|
rs762607882 CA6799462 |
518 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs200779266 CA6799464 |
518 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6799463 rs200779266 COSM1165899 |
518 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1187981200 CA386788578 |
519 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1420161943 CA386788590 |
520 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6799465 rs761048118 |
521 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 521 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6799490 rs762966669 |
523 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6799491 rs766604088 |
524 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1287701 rs757435949 CA6799492 |
524 | R>H | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs757435949 CA6799493 |
524 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1285199710 CA386789092 |
525 | A>S | No |
ClinGen gnomAD |
|
|
COSM170012 CA243728001 rs1017211821 |
527 | T>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 527 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6799494 rs371440764 |
528 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6799496 rs756037748 |
529 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777591556 CA386789206 |
531 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs777591556 CA6799497 |
531 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1180504350 CA386789241 |
532 | R>* | No |
ClinGen gnomAD |
|
|
rs748807513 CA6799498 |
532 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1470867478 CA386789269 |
534 | M>V | No |
ClinGen gnomAD |
|
|
CA386789315 rs1177485723 |
535 | A>V | No |
ClinGen gnomAD |
|
|
CA243728012 rs771076812 |
536 | L>F | No |
ClinGen gnomAD |
|
|
CA6799499 rs756755607 |
538 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA386790377 rs1192847446 |
541 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6799520 rs200351371 |
544 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200351371 CA386790410 |
544 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142422025 CA6799521 |
544 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142422025 CA6799522 |
544 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs985316067 CA243728540 |
546 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1428743215 CA386790435 |
546 | G>R | No |
ClinGen gnomAD |
|
|
rs1294694826 CA386790445 |
547 | D>N | No |
ClinGen TOPMed |
|
|
rs1017249869 CA243728551 |
548 | I>T | No |
ClinGen Ensembl |
|
|
rs1403099134 CA386790472 |
548 | I>V | No |
ClinGen gnomAD |
|
|
CA6799524 rs140744398 |
549 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1725256 rs373313875 CA6799526 |
551 | R>C | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6799527 rs774532498 |
551 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386790603 rs1320875405 |
554 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 556 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759709849 CA6799528 |
558 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1256237282 CA386790699 |
559 | M>T | No |
ClinGen gnomAD |
|
|
rs548204045 CA243728573 |
564 | Q>H | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1409553383 CA386790861 |
566 | G>S | No |
ClinGen TOPMed |
|
|
rs775611862 CA6799530 |
567 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs760511147 CA6799531 |
569 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1195103757 CA386790914 |
570 | G>S | No |
ClinGen gnomAD |
|
|
CA243728602 rs983722635 |
572 | I>T | No |
ClinGen Ensembl |
|
|
rs1368803394 CA386790945 |
572 | I>V | No |
ClinGen TOPMed |
|
|
CA6799532 rs763849876 |
573 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1479500368 CA386790968 |
573 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 575 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6799534 rs376534485 |
575 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749889530 CA6799536 |
576 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs749889530 CA386791023 |
576 | H>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 578 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386791053 rs1180526816 |
578 | A>S | No |
ClinGen TOPMed |
|
|
rs1180526816 CA386791051 |
578 | A>T | No |
ClinGen TOPMed |
|
|
rs140115309 COSM241460 CA6799538 |
582 | A>T | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA386791161 TCGA novel rs1593135326 |
583 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs756488213 CA6799540 |
585 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA386791207 rs1406265701 |
585 | Y>C | No |
ClinGen gnomAD |
|
|
rs1334628770 CA386791219 |
586 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386791256 rs1385089801 |
587 | D>V | No |
ClinGen gnomAD |
|
|
rs749693414 CA6799542 |
588 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA386791289 rs771515781 |
589 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA386791296 rs1217721350 |
590 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA386791335 rs1226498508 |
591 | K>N | No |
ClinGen TOPMed |
|
|
CA386791342 rs1291709332 |
592 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 593 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1460038035 CA386792181 |
595 | K>N | No |
ClinGen gnomAD |
|
|
rs796411416 CA243731472 |
595 | K>Q | No |
ClinGen Ensembl |
|
|
CA6799563 rs754129770 |
596 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA243731478 rs748661089 |
598 | M>I | No |
ClinGen gnomAD |
|
|
CA386792210 rs1190081200 |
598 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6799565 rs779556406 |
599 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1230388136 CA386792264 |
602 | A>T | No |
ClinGen gnomAD |
|
|
CA243731479 rs1006050334 |
603 | K>R | No |
ClinGen TOPMed |
|
|
rs1016012362 CA243731481 |
606 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6799567 rs772716211 |
607 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6799568 rs779928102 |
608 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1241525079 CA386792411 |
612 | T>I | No |
ClinGen gnomAD |
|
|
CA386792423 rs1484114687 |
613 | L>S | No |
ClinGen gnomAD |
|
|
CA386792497 rs1410288764 |
616 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA386792490 COSM935295 rs1410288764 |
616 | E>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 617 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472435730 CA386792553 |
618 | N>H | No |
ClinGen gnomAD |
|
|
rs768716613 CA6799570 |
618 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753156957 CA243732767 |
624 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 627 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758787174 CA6799585 |
629 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113799078 CA243732782 |
630 | L>P | No |
ClinGen Ensembl |
|
|
CA6799588 rs755127445 |
639 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs866588760 CA243732803 |
641 | D>N | No |
ClinGen Ensembl |
|
|
rs781269477 CA6799589 |
644 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770019578 CA6799591 |
645 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386793539 rs1274822337 |
647 | S>Y | No |
ClinGen gnomAD |
|
|
CA386793564 rs1283812209 |
648 | N>S | No |
ClinGen gnomAD |
|
|
rs1426022708 CA386793614 |
649 | D>E | No |
ClinGen TOPMed |
|
|
CA386794492 rs1256225547 |
653 | G>A | No |
ClinGen TOPMed |
|
|
CA6799614 rs745758020 |
653 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386794596 rs1340719191 |
661 | K>N | No |
ClinGen TOPMed |
|
|
rs904566579 CA243733343 |
663 | E>G | No |
ClinGen gnomAD |
|
|
CA6799617 rs367597186 |
664 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147348931 CA6799618 |
664 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 666 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243733365 rs967905395 |
668 | W>C | No |
ClinGen TOPMed |
|
|
rs763225966 CA6799620 |
670 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 670 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1398980615 CA386794741 |
673 | K>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 676 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6799622 rs751884546 |
677 | K>R | No |
ClinGen ExAC |
|
|
rs1319324527 CA386794833 |
679 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 680 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6799623 rs760024415 |
680 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6799624 rs372862366 |
681 | R>C | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747958042 CA243733410 |
681 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA243733420 rs901464349 |
684 | Q>P | No |
ClinGen Ensembl |
|
| TCGA novel | 686 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149505251 CA6799628 |
690 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386795031 rs757433178 |
691 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6799629 rs757433178 |
691 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA243733455 rs992574405 |
692 | S>L | No |
ClinGen TOPMed |
|
|
rs1473391673 CA386795107 |
695 | D>Q | No |
ClinGen gnomAD |
|
|
rs1304421730 CA386795116 |
695 | D>W | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9Y2J0
11 regional properties for Q9Y2J0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 392 - 514 | IPR000008-1 |
| domain | C2 domain | 550 - 683 | IPR000008-2 |
| domain | Synaptotagmin | 554 - 569 | IPR001565-1 |
| domain | Synaptotagmin | 569 - 582 | IPR001565-2 |
| domain | Synaptotagmin | 626 - 641 | IPR001565-3 |
| domain | Synaptotagmin | 646 - 656 | IPR001565-4 |
| domain | Rab-binding domain | 44 - 160 | IPR010911 |
| domain | Zinc finger, FYVE-related | 92 - 148 | IPR017455 |
| domain | Rabphilin-3A, FYVE domain | 92 - 171 | IPR028698 |
| domain | FYVE-type zinc finger | 49 - 160 | IPR041282 |
| domain | Rabphilin/Doc2, first C2 domain | 393 - 516 | IPR047022 |
Functions
12 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
| extrinsic component of membrane | The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| extrinsic component of synaptic vesicle membrane | The component of the synaptic vesicle membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| postsynaptic membrane | A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| secretory granule | A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
| synaptic vesicle | A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
| synaptic vesicle membrane | The lipid bilayer surrounding a synaptic vesicle. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| calcium-dependent phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester, in the presence of calcium. |
| inositol 1,4,5 trisphosphate binding | Binding to inositol 1,4,5 trisphosphate. |
| phosphate ion binding | Binding to a phosphate ion. |
| phosphatidylinositol phosphate binding | Binding to phosphatidylinositol phosphate. |
| phosphatidylinositol-4,5-bisphosphate binding | Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions. |
| protein-containing complex binding | Binding to a macromolecular complex. |
| selenium binding | Binding to a selenium (Se) ion. |
| small GTPase binding | Binding to a small monomeric GTPase. |
| zinc ion binding | Binding to a zinc ion (Zn). |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| exocytosis | A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. |
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
| regulation of calcium ion-dependent exocytosis | Any process that modulates the frequency, rate or extent of calcium ion-dependent exocytosis. |
| spontaneous neurotransmitter secretion | Neurotransmitter secretion that occurs in the absence of the action of a secretagogue or a presynaptic action potential. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q06846 | RPH3A | Rabphilin-3A | Bos taurus (Bovine) | PR |
| Q14183 | DOC2A | Double C2-like domain-containing protein alpha | Homo sapiens (Human) | PR |
| Q7TNF0 | Doc2a | Double C2-like domain-containing protein alpha | Mus musculus (Mouse) | PR |
| P47708 | Rph3a | Rabphilin-3A | Mus musculus (Mouse) | PR |
| P47709 | Rph3a | Rabphilin-3A | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTDTVFSNSS | NRWMYPSDRP | LQSNDKEQLQ | AGWSVHPGGQ | PDRQRKQEEL | TDEEKEIINR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VIARAEKMEE | MEQERIGRLV | DRLENMRKNV | AGDGVNRCIL | CGEQLGMLGS | ACVVCEDCKK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NVCTKCGVET | NNRLHSVWLC | KICIEQREVW | KRSGAWFFKG | FPKQVLPQPM | PIKKTKPQQP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VSEPAAPEQP | APEPKHPARA | PARGDSEDRR | GPGQKTGPDP | ASAPGRGNYG | PPVRRASEAR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MSSSSRDSES | WDHSGGAGDS | SRSPAGLRRA | NSVQASRPAP | GSVQSPAPPQ | PGQPGTPGGS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RPGPGPAGRF | PDQKPEVAPS | DPGTTAPPRE | ERTGGVGGYP | AVGAREDRMS | HPSGPYSQAS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AAAPQPAAAR | QPPPPEEEEE | EANSYDSDEA | TTLGALEFSL | LYDQDNSSLQ | CTIIKAKGLK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PMDSNGLADP | YVKLHLLPGA | SKSNKLRTKT | LRNTRNPIWN | ETLVYHGITD | EDMQRKTLRI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SVCDEDKFGH | NEFIGETRFS | LKKLKPNQRK | NFNICLERVI | PMKRAGTTGS | ARGMALYEEE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QVERVGDIEE | RGKILVSLMY | STQQGGLIVG | IIRCVHLAAM | DANGYSDPFV | KLWLKPDMGK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KAKHKTQIKK | KTLNPEFNEE | FFYDIKHSDL | AKKSLDISVW | DYDIGKSNDY | IGGCQLGISA |
| 670 | 680 | 690 | |||
| KGERLKHWYE | CLKNKDKKIE | RWHQLQNENH | VSSD |