P0C0E4
PR
Gene name |
RAB40AL (RLGP) |
Protein name |
Ras-related protein Rab-40A-like |
Names |
Ras-like GTPase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:282808 |
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 P0C0E4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P0C0E4-F1 | Predicted | AlphaFoldDB |
216 variants for P0C0E4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
COSM3694249 CA130033 RCV000030692 COSM3694248 VAR_068916 rs145606134 |
59 | D>G | Deafness-intellectual disability, Martin-Probst type syndrome large_intestine renders the protein unstable and disrupts its cytoplasmic localization [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10477033 RCV000616288 RCV001726271 rs61729484 |
259 | I>V | Deafness-intellectual disability, Martin-Probst type syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000626129 rs767350323 |
1 | M>K | No |
ClinVar dbSNP |
|
|
CA10476881 rs750145091 |
3 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA10476883 rs756408214 |
3 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10476885 rs780391571 |
4 | P>Q | No |
ClinGen ExAC |
|
|
CA10476889 rs748691058 |
6 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161408571 CA414070079 |
7 | P>L | No |
ClinGen gnomAD |
|
|
rs1569510857 CA414070092 |
8 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA10476891 rs773644436 |
8 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405470081 CA414070117 |
10 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1405470081 CA414070115 |
10 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1405470081 CA414070114 |
10 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 11 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 16 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 16 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10476893 rs150884383 |
16 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414070214 rs1399218000 |
19 | L>P | No |
ClinGen gnomAD |
|
|
CA10476896 rs147769041 |
20 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414070230 rs1360805866 |
21 | G>S | No |
ClinGen gnomAD |
|
|
CA10476900 rs750272998 |
22 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA10476899 rs368479131 |
22 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414070245 rs368479131 |
22 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61745030 RCV001811563 CA10476901 |
23 | R>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs372360800 CA10476902 |
24 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374718857 CA10476905 |
25 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10476904 rs755181941 |
25 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA333938110 rs386826706 |
28 | S>G | No |
ClinGen Ensembl |
|
|
RCV001811564 rs61745026 CA10476907 |
28 | S>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA414070370 rs1343340414 |
31 | L>V | No |
ClinGen gnomAD |
|
|
CA414070404 rs747476866 |
33 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10476909 rs747476866 |
33 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776924788 CA10476911 |
34 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 35 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs1314804878 CA414070443 |
35 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA414070457 rs1383941915 |
36 | D>G | No |
ClinGen gnomAD |
|
|
rs867250131 CA333938111 |
37 | G>D | No |
ClinGen Ensembl |
|
|
CA10476914 rs186210697 |
37 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs761196461 CA10476915 |
38 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA10476916 rs761196461 |
38 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA414070487 rs1262557452 |
39 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1262557452 CA414070489 |
39 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10476919 rs766278699 |
40 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759895928 CA10476918 |
40 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1445068116 CA414070532 |
41 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 42 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10476924 rs758407109 |
46 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA10476927 rs757696594 |
47 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA414070605 rs752021585 CA10476926 |
47 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746183617 CA10476930 |
50 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 50 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414070665 CA333938112 rs200909062 |
51 | Y>* | No |
ClinGen TOPMed |
|
|
rs1224772387 CA414070655 |
51 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs768337081 CA10476931 |
52 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321440916 CA414070677 |
52 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 53 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414070710 rs1288934968 |
55 | T>A | No |
ClinGen TOPMed |
|
|
CA10476934 COSM3694250 COSM3694251 rs138133927 |
59 | D>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10476933 rs747750369 |
59 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1480269933 CA414070764 |
60 | G>S | No |
ClinGen gnomAD |
|
|
CA414070786 COSM1464519 rs1294860061 COSM1464518 |
62 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs760723968 CA10476935 |
63 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409559770 CA414070819 |
65 | L>M | No |
ClinGen gnomAD |
|
|
rs1479201169 CA414070864 |
68 | W>* | No |
ClinGen gnomAD |
|
|
rs372037322 CA10476937 |
71 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1470745084 CA414070911 |
72 | G>E | No |
ClinGen gnomAD |
|
|
CA10476938 rs370924999 |
73 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 76 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1182126472 CA414070978 |
77 | C>S | No |
ClinGen TOPMed |
|
|
rs1443588476 CA414071013 |
80 | F>L | No |
ClinGen gnomAD |
|
|
CA414071075 rs1300469874 |
85 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10476941 rs765566134 |
85 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10476940 rs765566134 |
85 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146065311 CA10476942 RCV001528589 RCV000506323 |
86 | G>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA414071121 rs1271565164 |
87 | A>E | No |
ClinGen TOPMed |
|
|
rs1325940066 CA414071163 |
89 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA414071184 rs1294506237 |
90 | V>E | No |
ClinGen gnomAD |
|
|
rs1270657822 CA414071204 |
91 | I>T | No |
ClinGen gnomAD |
|
|
rs750853640 CA10476947 |
95 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA10476946 rs781649608 |
95 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1238263542 CA414071323 |
96 | I>T | No |
ClinGen TOPMed |
|
|
CA333938116 rs780406762 COSM1112193 COSM1112194 |
99 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs780406762 CA10476949 |
99 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149384991 CA10476950 |
99 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149384991 CA333938117 |
99 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 101 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1418321435 CA414071511 |
103 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1410918032 CA414071530 |
104 | G>S | No |
ClinGen gnomAD |
|
|
rs370105207 CA333938118 |
104 | G>V | No |
ClinGen Ensembl |
|
|
rs771711954 CA10476951 |
106 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771711954 CA333938119 |
106 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781310794 CA10476952 |
107 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs746491470 CA10476953 |
111 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA10476954 rs771029403 |
112 | I>V | No |
ClinGen ExAC |
|
|
CA10476955 rs776708915 |
114 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs759466633 CA10476956 |
115 | H>Q | No |
ClinGen ExAC TOPMed |
|
|
CA414071843 rs1569510892 |
116 | A>S | No |
ClinGen Ensembl |
|
|
rs769493325 CA10476958 |
116 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 117 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775290241 CA10476959 |
118 | G>A | No |
ClinGen ExAC |
|
| rs779145147 | 118 | G>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10476960 rs763118080 |
119 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10476961 rs374015313 |
122 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10476963 rs761876041 |
123 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144092531 CA10476965 |
127 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1357210007 CA414072087 |
127 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA414072129 rs1190764849 |
129 | H>R | No |
ClinGen TOPMed |
|
|
rs1251335326 CA414072122 |
129 | H>Y | No |
ClinGen TOPMed |
|
|
rs1465359343 COSM456380 COSM456379 CA414072244 |
133 | K>N | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 134 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10476966 rs756575978 |
136 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA414072297 rs1247474841 |
136 | V>M | No |
ClinGen TOPMed |
|
|
CA10476967 rs766681598 |
137 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414072321 rs766681598 |
137 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 139 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147314815 CA10476969 |
140 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1475530047 CA414072444 |
141 | A>T | No |
ClinGen gnomAD |
|
|
COSM384865 CA414072492 COSM384864 rs1383694835 |
143 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA10476972 rs777533006 |
145 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs777533006 CA10476971 |
145 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA414072603 rs745807694 |
147 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA414072607 rs1399071825 |
147 | R>H | No |
ClinGen gnomAD |
|
|
CA414072613 rs1399071825 |
147 | R>L | No |
ClinGen gnomAD |
|
|
CA10476975 rs745807694 |
147 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1317726536 CA414072642 |
149 | G>A | No |
ClinGen gnomAD |
|
|
rs775173531 CA10476977 |
150 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs775173531 CA10476978 |
150 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 152 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10476979 rs768802440 |
154 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA333938120 rs141036852 |
156 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs267606295 CA414072863 |
158 | L>M | No |
ClinGen gnomAD |
|
|
rs267606295 CA414072864 |
158 | L>V | No |
ClinGen gnomAD |
|
|
rs1380077684 CA414072888 |
159 | C>W | No |
ClinGen TOPMed |
|
|
rs761965799 CA10476981 |
159 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414072949 rs1404919274 |
161 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA333938122 rs748398721 |
162 | N>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1426608755 CA414073073 |
166 | S>P | No |
ClinGen gnomAD |
|
|
CA414073159 rs1210158122 |
169 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1210158122 CA414073161 |
169 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1195069972 CA414073233 |
171 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs144996990 CA10476984 |
173 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414073400 rs1444217968 |
176 | L>P | No |
ClinGen TOPMed |
|
|
CA10476988 rs754190995 |
177 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1158082208 CA414073424 |
177 | R>W | No |
ClinGen gnomAD |
|
|
rs1569510904 CA414073537 |
180 | L>F | No |
ClinGen Ensembl |
|
|
rs755362331 CA10476989 |
180 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414073570 rs770058722 |
181 | N>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA10476990 rs763900760 |
184 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA10476991 rs751272736 |
184 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342407526 CA414073720 |
186 | P>L | No |
ClinGen TOPMed |
|
|
rs150938412 CA10476992 |
186 | P>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA414073891 rs756056894 |
190 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756056894 CA10476995 |
190 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 193 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10476996 rs780011542 |
193 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs749093895 CA10476997 |
194 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA10476998 rs768451534 |
196 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10476999 rs200643084 |
198 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1460596395 CA414074221 |
199 | T>I | No |
ClinGen gnomAD |
|
|
rs139506490 CA333938124 |
200 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10477000 rs748399564 |
201 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 202 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772229802 CA10477001 |
203 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414074403 rs1364484319 |
205 | P>R | No |
ClinGen gnomAD |
|
|
rs1310202271 CA414074397 |
205 | P>T | No |
ClinGen TOPMed |
|
|
CA10477003 rs760774015 |
208 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771404787 CA10477005 |
209 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs771404787 CA10477004 |
209 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1303213950 CA414074584 |
211 | K>N | No |
ClinGen gnomAD |
|
|
rs1470390163 CA414074551 |
211 | K>Q | No |
ClinGen gnomAD |
|
|
CA10477007 rs149703126 |
212 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1328155767 CA414074702 |
214 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10477009 rs761581070 |
215 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA414074779 rs1474823057 |
216 | I>M | No |
ClinGen TOPMed |
|
|
rs1411196849 CA414074775 |
216 | I>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 216 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10477010 rs767256032 |
217 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414074789 rs767256032 |
217 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000507937 rs148863690 CA10477011 |
220 | S>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs145465965 CA10477012 |
221 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414075104 rs1337803698 |
227 | M>R | No |
ClinGen gnomAD |
|
|
rs779372953 CA10477013 |
228 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1358103293 CA414075206 |
230 | G>A | No |
ClinGen TOPMed |
|
|
CA10477014 rs146508617 |
234 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414075358 rs1197373627 |
235 | M>I | No |
ClinGen gnomAD |
|
|
CA10477015 rs754869262 |
235 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414075341 rs1232191452 |
235 | M>V | No |
ClinGen TOPMed |
|
|
CA414075407 COSM1112205 COSM1112206 rs1268182246 |
237 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1410775082 COSM290697 COSM290698 CA414075418 |
237 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA10477018 rs199726883 |
240 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10477020 rs778048866 |
243 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA333938126 rs909476514 |
245 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA10477021 rs201700334 |
245 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10477022 rs771059567 |
246 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA333938127 rs771059567 |
246 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10477023 rs776511318 |
246 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA333938128 rs1036045618 |
248 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA10477024 rs759854152 |
249 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770379508 CA10477025 |
252 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10477026 rs369908238 |
253 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374632220 CA10477027 |
254 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10477030 rs760176957 |
258 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765945155 CA10477031 |
258 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10477032 rs376927996 |
258 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1390485869 CA414075994 |
260 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA10477034 rs778787472 |
263 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs776202695 CA10477035 |
264 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 264 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1051552617 CA333938129 |
266 | P>S | No |
ClinGen TOPMed |
|
|
CA414076197 rs1364867321 |
267 | P>L | No |
ClinGen gnomAD |
|
|
rs1350658585 CA414076174 |
267 | P>S | No |
ClinGen TOPMed |
|
|
rs56008937 CA333938130 |
269 | N>S | No |
ClinGen Ensembl |
|
|
CA414076302 rs1294757357 |
271 | T>A | No |
ClinGen gnomAD |
|
|
CA10477038 rs747262736 |
274 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA414076406 rs1298835070 |
275 | C>Y | No |
ClinGen gnomAD |
|
|
rs1331850820 CA414076486 |
277 | I>M | No |
ClinGen TOPMed |
No associated diseases with P0C0E4
No regional properties for P0C0E4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P0C0E4 | |||
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. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTP binding | Binding to GTP, guanosine triphosphate. |
| GTPase activity | Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
28 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P07560 | SEC4 | Ras-related protein SEC4 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q2HJI8 | RAB8B | Ras-related protein Rab-8B | Bos taurus (Bovine) | PR |
| A4FV54 | RAB8A | Ras-related protein Rab-8A | Bos taurus (Bovine) | PR |
| Q1RMR4 | RAB15 | Ras-related protein Rab-15 | Bos taurus (Bovine) | PR |
| Q5F470 | RAB8A | Ras-related protein Rab-8A | Gallus gallus (Chicken) | PR |
| Q12829 | RAB40B | Ras-related protein Rab-40B | Homo sapiens (Human) | PR |
| Q6IQ22 | RAB12 | Ras-related protein Rab-12 | Homo sapiens (Human) | PR |
| Q8WXH6 | RAB40A | Ras-related protein Rab-40A | Homo sapiens (Human) | PR |
| Q92930 | RAB8B | Ras-related protein Rab-8B | Homo sapiens (Human) | PR |
| Q96S21 | RAB40C | Ras-related protein Rab-40C | Homo sapiens (Human) | PR |
| P61006 | RAB8A | Ras-related protein Rab-8A | Homo sapiens (Human) | PR |
| P59190 | RAB15 | Ras-related protein Rab-15 | Homo sapiens (Human) | PR |
| P55258 | Rab8a | Ras-related protein Rab-8A | Mus musculus (Mouse) | PR |
| Q8K386 | Rab15 | Ras-related protein Rab-15 | Mus musculus (Mouse) | PR |
| P61028 | Rab8b | Ras-related protein Rab-8B | Mus musculus (Mouse) | PR |
| P35283 | Rab12 | Ras-related protein Rab-12 | Mus musculus (Mouse) | PR |
| Q9DD03 | Rab13 | Ras-related protein Rab-13 | Mus musculus (Mouse) | PR |
| Q8CB87 | Rab44 | Ras-related protein Rab-44 | Mus musculus (Mouse) | PR |
| Q8VHQ4 | Rab40c | Ras-related protein Rab-40C | Mus musculus (Mouse) | PR |
| Q8VHP8 | Rab40b | Ras-related protein Rab-40B | Mus musculus (Mouse) | PR |
| P35289 | Rab15 | Ras-related protein Rab-15 | Rattus norvegicus (Rat) | PR |
| P35280 | Rab8a | Ras-related protein Rab-8A | Rattus norvegicus (Rat) | PR |
| P70550 | Rab8b | Ras-related protein Rab-8B | Rattus norvegicus (Rat) | PR |
| P35284 | Rab12 | Ras-related protein Rab-12 | Rattus norvegicus (Rat) | PR |
| P35281 | Rab10 | Ras-related protein Rab-10 | Rattus norvegicus (Rat) | PR |
| O24466 | RABE1A | Ras-related protein RABE1a | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SF91 | RABE1E | Ras-related protein RABE1e | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LZD4 | RABE1D | Ras-related protein RABE1d | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSAPGSPDQA | YDFLLKFLLV | GDRDVGKSEI | LESLQDGTAE | SPYSHLGGID | YKTTTILLDG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QRVKLKLWDT | SGQGRFCTIF | RSYSRGAQGV | ILVYDIANRW | SFEGMDRWIK | KIEEHAPGVP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KILVGNRLHL | AFKRQVPREQ | AQAYAERLGV | TFFEVSPLCN | FNIIESFTEL | ARIVLLRHRL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NWLGRPSKVL | SLQDLCCRTI | VSCTPVHLVD | KLPLPIALRS | HLKSFSMAKG | LNARMMRGLS |
| 250 | 260 | 270 | |||
| YSLTTSSTHK | RSSLCKVKIV | CPPQSPPKNC | TRNSCKIS |