Q8WWW0
Gene name |
RASSF5 (NORE1, RAPL) |
Protein name |
Ras association domain-containing protein 5 |
Names |
Fc alpha/mu receptor, New ras effector 1, Regulator for cell adhesion and polarization enriched in lymphoid tissues, RAPL |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83593 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q8WWW0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4LGD | X-ray | 305 A | E/F/G/H | 365-413 | PDB |
| 4OH8 | X-ray | 228 A | B | 366-418 | PDB |
| AF-Q8WWW0-F1 | Predicted | AlphaFoldDB |
347 variants for Q8WWW0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA344461332 rs1553393899 |
3 | M>I | No |
ClinGen gnomAD |
|
|
CA344461322 CA344461323 rs1553393895 |
3 | M>L | No |
ClinGen gnomAD |
|
|
CA344461324 rs1553393895 |
3 | M>V | No |
ClinGen gnomAD |
|
|
CA344461366 rs1553393905 |
7 | A>D | No |
ClinGen gnomAD |
|
|
rs1553393905 CA344461370 |
7 | A>V | No |
ClinGen gnomAD |
|
|
rs1572281637 CA344461373 |
8 | I>V | No |
ClinGen Ensembl |
|
|
rs1015628700 CA36534791 |
9 | G>A | No |
ClinGen TOPMed |
|
|
rs868979518 CA344461378 |
9 | G>W | No |
ClinGen Ensembl |
|
|
rs1364626634 CA344461390 |
10 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs868946180 CA344461393 |
11 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs868946180 CA344461391 |
11 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1431058319 CA344461400 |
12 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1553393920 CA344461399 |
12 | P>S | No |
ClinGen gnomAD |
|
|
rs782180379 CA1361986 |
13 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA1361987 rs782359788 |
13 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA1361988 rs781952718 |
14 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA344461412 rs781952718 |
14 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA344461411 rs1416774848 |
14 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1416774848 CA344461409 |
14 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs782422450 CA1361990 |
15 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1553393931 CA344461418 |
16 | L>I | No |
ClinGen gnomAD |
|
|
rs782066092 CA1361992 |
16 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs868966664 CA344461428 |
17 | L>F | No |
ClinGen Ensembl |
|
|
CA344461432 rs1553393935 |
18 | D>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1553393936 CA344461438 |
19 | P>S | No |
ClinGen gnomAD |
|
|
rs782073723 CA344461444 |
20 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA1361995 rs782073723 |
20 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA344461443 rs782073723 |
20 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1553393942 CA344461453 |
21 | P>Q | No |
ClinGen gnomAD |
|
|
CA344461452 rs1553393941 |
21 | P>T | No |
ClinGen gnomAD |
|
|
rs782799787 CA1361996 |
22 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1361997 rs781866355 |
23 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA344461461 rs1553393948 |
23 | R>S | No |
ClinGen gnomAD |
|
|
CA344461483 rs1553393959 |
26 | Q>R | No |
ClinGen TOPMed |
|
|
rs1553393961 CA344461490 |
27 | S>N | No |
ClinGen gnomAD |
|
|
rs1553393961 CA344461491 |
27 | S>T | No |
ClinGen gnomAD |
|
|
rs781808271 CA344461497 |
28 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781808271 CA1362000 |
28 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344461500 rs1553393964 |
29 | S>G | No |
ClinGen gnomAD |
|
|
CA344461507 rs967794608 |
30 | G>C | No |
ClinGen gnomAD |
|
|
rs967794608 CA36534878 |
30 | G>S | No |
ClinGen gnomAD |
|
|
rs782610236 CA1362002 |
31 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA36534889 rs977724049 |
32 | E>D | No |
ClinGen TOPMed |
|
|
CA344461518 rs1553393969 |
32 | E>Q | No |
ClinGen gnomAD |
|
|
CA344461534 rs1402818896 |
34 | P>L | No |
ClinGen TOPMed |
|
|
rs369172848 CA36534890 |
36 | P>T | No |
ClinGen gnomAD |
|
|
CA36534893 rs923642211 |
37 | P>S | No |
ClinGen Ensembl |
|
|
rs923642211 CA36534891 |
37 | P>T | No |
ClinGen Ensembl |
|
|
CA344461552 rs1553393978 |
38 | P>A | No |
ClinGen gnomAD |
|
|
CA1362005 rs557108539 |
38 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344461554 rs557108539 |
38 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1362004 rs557108539 |
38 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1169220169 CA344461561 |
39 | D>E | No |
ClinGen TOPMed gnomAD |
|
| rs1344667401 | 39 | D>T | Variant assessed as Somatic; 0.0001471 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs993098629 CA36534943 |
40 | R>L | No |
ClinGen Ensembl |
|
|
rs934881220 CA36534935 |
40 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA36534945 rs917381880 |
42 | S>L | No |
ClinGen Ensembl |
|
|
CA344461580 rs1174941122 |
43 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs782327060 CA1362008 |
44 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252996743 CA344461586 |
44 | L>P | No |
ClinGen TOPMed |
|
|
CA36534949 rs577132400 |
45 | C>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1553393994 CA344461589 |
45 | C>R | No |
ClinGen gnomAD |
|
|
rs1553393995 CA344461599 |
46 | V>L | No |
ClinGen gnomAD |
|
|
rs888516223 CA36534952 |
47 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs941467957 CA344461617 |
48 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1362009 rs782563542 |
48 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA36534960 rs941467957 |
48 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1553393999 CA344461631 |
50 | L>H | No |
ClinGen gnomAD |
|
|
CA344461641 rs1221612339 |
51 | S>F | No |
ClinGen TOPMed |
|
|
rs181163167 CA1362010 |
53 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs181163167 CA344461658 |
53 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782334742 CA1362011 |
54 | P>S | No |
ClinGen ExAC TOPMed |
|
|
CA36534971 CA1362012 rs559841670 |
55 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782119488 CA1362013 |
56 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553394008 CA344461683 |
57 | R>C | No |
ClinGen gnomAD |
|
|
CA344461685 rs1553394009 |
57 | R>H | No |
ClinGen gnomAD |
|
|
CA1362014 rs574913315 |
58 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782024454 CA1362015 |
60 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782024454 CA344461707 |
60 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344461715 rs1161874928 |
61 | S>G | No |
ClinGen TOPMed |
|
|
CA344461725 rs1006706460 |
62 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA36534996 rs1006706460 |
62 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA36535017 rs967762093 |
63 | R>Q | No |
ClinGen TOPMed |
|
|
CA36535011 rs1022123030 |
63 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA344461743 rs1201672798 |
64 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1553394014 CA344461793 |
67 | R>Q | No |
ClinGen gnomAD |
|
|
rs561918883 CA1362017 |
68 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1362018 rs781843602 |
69 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA344461825 rs1217742773 |
71 | E>K | No |
ClinGen TOPMed |
|
|
rs142795603 CA1362019 |
72 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1305805960 CA344461851 |
73 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1553394029 CA344461845 |
73 | P>T | No |
ClinGen gnomAD |
|
|
rs1553394032 CA344461866 |
75 | R>G | No |
ClinGen gnomAD |
|
|
rs1228541045 CA344461870 |
75 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs960422165 CA344461897 |
78 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs960422165 CA36535056 |
78 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1362020 rs782795686 |
79 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781898198 CA1362021 |
80 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782542315 CA344461926 |
81 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782542315 CA1362022 |
81 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1362023 rs550837779 |
81 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA36535087 rs570368124 |
82 | P>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA344461965 rs1425836417 |
84 | R>L | No |
ClinGen TOPMed |
|
|
CA344461961 rs1553394040 |
84 | R>W | No |
ClinGen gnomAD |
|
|
rs1383454282 CA344461984 |
86 | G>S | No |
ClinGen TOPMed |
|
|
rs57865548 CA344461997 |
87 | L>V | No |
ClinGen gnomAD |
|
|
rs781788863 CA1362024 |
88 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs532720302 CA1362025 |
89 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs933991594 CA36535137 |
92 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA344462084 rs1259940272 |
95 | P>S | No |
ClinGen TOPMed |
|
|
rs1553394056 CA344462105 |
97 | A>T | No |
ClinGen gnomAD |
|
|
CA344462115 rs1361242732 |
98 | P>S | No |
ClinGen TOPMed |
|
|
rs782375171 CA1362028 |
99 | R>Q | No |
ClinGen ExAC |
|
|
rs889707187 CA36535169 |
100 | P>A | No |
ClinGen gnomAD |
|
|
rs1007251864 CA36535174 |
100 | P>L | No |
ClinGen Ensembl |
|
|
CA344462127 rs889707187 |
100 | P>S | No |
ClinGen gnomAD |
|
|
rs782694757 CA344462148 |
101 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782694757 CA1362030 |
101 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782694757 CA344462135 |
101 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553394068 CA344462170 |
103 | V>G | No |
ClinGen gnomAD |
|
|
rs782281850 CA1362031 |
103 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA344462172 rs1553394070 |
104 | R>G | No |
ClinGen gnomAD |
|
|
rs1361678222 CA344462176 |
104 | R>L | No |
ClinGen TOPMed |
|
|
CA344462171 rs1553394070 |
104 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA344462182 rs1294550945 |
105 | S>N | No |
ClinGen TOPMed |
|
|
CA344462191 rs1553394074 |
106 | I>V | No |
ClinGen gnomAD |
|
|
CA344462206 rs1553394075 |
107 | F>C | No |
ClinGen gnomAD |
|
|
CA344462223 rs1459609445 |
108 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA344462234 rs1553394078 |
108 | E>D | No |
ClinGen gnomAD |
|
|
CA344462239 rs1553394080 |
109 | Q>* | No |
ClinGen gnomAD |
|
|
rs903699582 CA36535189 |
111 | Q>P | No |
ClinGen TOPMed |
|
|
rs1163205275 CA344462276 |
112 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 112 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA36535190 rs546298221 |
113 | P>L | No |
ClinGen 1000Genomes |
|
|
rs1430445939 CA344462282 |
113 | P>S | No |
ClinGen TOPMed |
|
|
rs1392110046 CA344462288 |
114 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1362032 rs782332774 |
115 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 117 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553394093 CA344462312 |
117 | A>V | No |
ClinGen gnomAD |
|
|
CA344462322 rs1553394094 |
119 | R>* | No |
ClinGen gnomAD |
|
|
CA1362033 rs781924171 |
120 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 122 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA36535213 rs1030721805 |
124 | C>S | No |
ClinGen Ensembl |
|
|
rs1553394097 CA344462377 |
125 | F>L | No |
ClinGen gnomAD |
|
|
rs782004015 CA1362036 |
126 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA1362035 rs782347381 |
126 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1553394098 CA344462396 |
127 | E>* | No |
ClinGen Ensembl |
|
|
rs1013236058 CA36535243 |
127 | E>D | No |
ClinGen Ensembl |
|
|
CA1362037 rs782159442 |
127 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1362038 rs782782706 |
128 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553394101 CA344462406 |
129 | V>M | No |
ClinGen gnomAD |
|
|
CA1362040 rs782046050 |
131 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252611736 CA344462421 |
131 | P>L | No |
ClinGen TOPMed |
|
|
CA344462425 rs1225867096 |
132 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 133 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782739938 CA1362041 |
133 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1362042 rs781816978 |
134 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA36535273 rs980359268 |
136 | W>* | No |
ClinGen TOPMed |
|
|
rs1344063691 CA344462454 |
137 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1344063691 CA344462453 |
137 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1572282680 CA344462459 |
137 | C>W | No |
ClinGen Ensembl |
|
|
rs781906338 CA1362045 |
140 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA36535278 rs777728322 |
141 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1553394116 CA344462486 |
142 | R>* | No |
ClinGen Ensembl |
|
|
CA344462490 rs1398712023 |
142 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA344462489 rs1398712023 |
142 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1553394119 CA344462758 |
145 | L>Q | No |
ClinGen gnomAD |
|
|
CA344462759 rs1553394124 |
146 | R>G | No |
ClinGen gnomAD |
|
|
rs1372380106 CA344462762 |
146 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA344462761 rs1372380106 |
146 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs782183659 CA1362050 |
148 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA1362051 rs78394637 |
150 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1362052 rs782603574 |
150 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344462794 rs782603574 |
150 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344462790 rs78394637 |
150 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1553394128 CA344462805 |
152 | T>A | No |
ClinGen gnomAD |
|
|
CA344462808 rs1553394130 |
152 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 153 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344462812 rs1553394132 |
153 | N>Y | No |
ClinGen gnomAD |
|
|
CA1362061 rs781984025 |
154 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA344467656 rs1212423666 |
158 | C>G | No |
ClinGen TOPMed |
|
|
CA344467700 rs1310527980 |
161 | E>* | No |
ClinGen TOPMed |
|
|
rs782799384 CA1362063 |
163 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781811232 CA1362065 |
163 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781811232 CA1362064 |
163 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA344467752 rs1553398916 |
164 | S>I | No |
ClinGen gnomAD |
|
|
CA1362066 CA344467755 rs782762921 |
164 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1012028034 CA36548901 |
167 | Q>H | No |
ClinGen Ensembl |
|
|
rs1553398921 CA344467824 |
169 | D>V | No |
ClinGen gnomAD |
|
|
CA344467877 rs1553398926 |
172 | Q>H | No |
ClinGen gnomAD |
|
|
CA36548912 rs1027312389 |
174 | E>D | No |
ClinGen gnomAD |
|
|
CA1362067 rs781821022 |
175 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA344467910 rs781821022 |
175 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1290113831 CA344467946 |
177 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1290113831 CA344467944 |
177 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs782638829 CA1362069 |
178 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1362068 rs782524239 |
178 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344468011 rs1572320375 |
183 | P>Q | No |
ClinGen Ensembl |
|
|
CA1362070 rs369222315 |
183 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344468083 rs782448998 |
186 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1362071 rs782448998 |
186 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA344468073 rs1572320390 |
186 | T>P | No |
ClinGen Ensembl |
|
|
CA1362074 rs782332110 |
189 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1362073 rs148860285 |
189 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139992469 CA1362077 |
190 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782236204 CA1362076 |
190 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA344468194 rs1157501963 |
193 | Q>E | No |
ClinGen TOPMed |
|
|
CA1362079 rs782072478 |
193 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA1362139 rs782576124 |
196 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782222502 CA1362140 |
196 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1553406753 CA344463233 |
197 | K>E | No |
ClinGen gnomAD |
|
|
rs1331153170 CA344463273 |
199 | V>A | No |
ClinGen TOPMed |
|
|
CA1362143 rs545147786 |
200 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344463327 rs1553406765 |
203 | Q>* | No |
ClinGen gnomAD |
|
|
rs144335994 CA1362144 |
204 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782012174 CA1362145 |
204 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1362146 rs782190148 |
205 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs202049293 CA36537548 |
206 | P>L | No |
ClinGen Ensembl |
|
|
rs1553406782 CA344463456 |
209 | Q>R | No |
ClinGen gnomAD |
|
|
CA344463472 rs1553406784 |
210 | E>K | No |
ClinGen gnomAD |
|
|
rs782785296 CA1362153 |
216 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782785296 CA1362152 |
216 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 219 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782797227 CA1362155 |
220 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1362157 rs148841211 |
221 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200076913 CA1362158 |
221 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1362191 rs199649479 |
234 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1362192 rs782332000 |
235 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA344464161 rs782573550 |
235 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA344464158 rs782573550 |
235 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA1362193 rs782573550 |
235 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA344464188 rs1553407042 |
237 | T>A | No |
ClinGen gnomAD |
|
|
CA344464202 rs1553407044 |
237 | T>M | No |
ClinGen gnomAD |
|
|
rs782389172 CA1362195 |
238 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1553407049 CA344464264 |
241 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 242 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553407052 CA344464279 |
242 | V>L | No |
ClinGen gnomAD |
|
|
rs1553407057 CA344464308 |
243 | H>R | No |
ClinGen gnomAD |
|
|
rs150163860 CA1362198 |
247 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1362199 rs150163860 |
247 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369854759 CA1362197 |
247 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1362200 rs545894272 |
248 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1553407065 CA344464390 |
248 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA344464419 rs1553407069 |
250 | V>L | No |
ClinGen gnomAD |
|
|
rs201563198 CA1362202 |
251 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs782546661 CA1362206 |
253 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs910307989 CA36537863 |
254 | A>G | No |
ClinGen TOPMed |
|
|
CA344464559 rs782470099 |
257 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1362209 rs782470099 |
257 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782709734 CA1362207 |
257 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA36537869 rs539554161 |
260 | S>F | No |
ClinGen Ensembl |
|
|
rs1553407088 CA344464604 |
260 | S>P | No |
ClinGen gnomAD |
|
|
CA1362210 rs782647521 |
261 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782553437 CA1362212 |
265 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs782667123 CA1362213 |
267 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA344464781 rs1553407102 |
267 | E>V | No |
ClinGen gnomAD |
|
|
rs782184864 CA1362214 |
269 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1362217 rs782218272 |
271 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046688940 CA36537899 |
273 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1362221 rs149067883 |
274 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1362220 rs149067883 |
274 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA36537912 rs201417666 CA344464930 |
275 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344464913 rs1553407114 |
275 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1414337712 CA344464931 |
276 | K>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 276 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs900661125 CA36537913 |
277 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1362225 rs4845112 |
277 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344465030 rs1572372974 |
281 | Y>S | No |
ClinGen Ensembl |
|
|
CA36537915 rs932181365 |
285 | D>N | No |
ClinGen Ensembl |
|
|
rs1553407134 CA344465119 |
288 | K>Q | No |
ClinGen gnomAD |
|
|
rs1572373009 CA344465207 |
293 | S>G | No |
ClinGen Ensembl |
|
|
rs782500219 CA1362226 |
294 | S>G | No |
ClinGen ExAC |
|
|
CA344465258 rs1553407144 |
295 | T>N | No |
ClinGen gnomAD |
|
|
CA1362227 rs782806231 |
297 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1362229 rs782455588 |
298 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA344465319 rs1157845699 |
299 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA36537938 rs140118607 |
303 | Q>E | No |
ClinGen ESP |
|
|
rs782557894 CA1362230 |
303 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs782662751 CA1362233 |
306 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA1362236 rs782249472 |
307 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1553407164 CA344465426 |
307 | K>R | No |
ClinGen gnomAD |
|
|
rs1185347490 CA344465444 |
310 | M>V | No |
ClinGen TOPMed |
|
|
CA1362237 rs147291212 |
316 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200663011 CA1362238 |
317 | K>R | No |
ClinGen 1000Genomes ExAC |
|
|
rs782205958 CA1362239 |
319 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA36537952 rs1054565713 |
321 | F>L | No |
ClinGen Ensembl |
|
|
rs782316266 CA1362240 |
322 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1362242 rs570039354 |
323 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs550196205 CA1362241 |
323 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1553407184 CA344465543 |
324 | I>T | No |
ClinGen gnomAD |
|
|
rs1553407191 CA344465551 |
325 | H>R | No |
ClinGen gnomAD |
|
|
rs1553407194 TCGA novel CA344465561 |
326 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA1362245 rs144913020 |
328 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344465580 rs1558524714 |
329 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1292180361 CA344465737 |
330 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1364776088 CA344465741 |
331 | L>V | No |
ClinGen TOPMed |
|
|
CA1362276 rs782607707 |
333 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs746023356 CA36538100 |
335 | L>P | No |
ClinGen Ensembl |
|
|
rs148610151 CA1362277 |
336 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782558201 CA1362278 |
337 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1362280 rs561503861 |
340 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1362281 rs782312271 |
340 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA344465809 rs1553407363 |
342 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 342 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1572374809 CA344465818 |
343 | Y>S | No |
ClinGen Ensembl |
|
|
CA1362282 rs782615062 |
345 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782213884 CA1362283 |
345 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344465859 rs1171545733 |
350 | P>R | No |
ClinGen TOPMed |
|
|
rs782292608 CA1362286 |
351 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs530192428 CA1362287 |
352 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782753442 CA1362290 |
354 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1485473538 CA344465937 |
362 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA344465959 rs1553407380 |
365 | G>R | No |
ClinGen gnomAD |
|
|
rs1253444123 CA344465968 |
366 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs563800378 CA36538122 |
367 | V>A | No |
ClinGen 1000Genomes |
|
| TCGA novel | 367 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344466842 rs1553407747 |
369 | W>S | No |
ClinGen gnomAD |
|
|
rs782145620 CA1362313 |
370 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 370 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344466859 rs1553407755 |
371 | A>G | No |
ClinGen gnomAD |
|
|
CA344466860 rs1553407755 |
371 | A>V | No |
ClinGen gnomAD |
|
|
CA1362314 rs782710434 |
372 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs374894198 CA1362315 |
373 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA36538500 rs781884773 |
374 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA344466881 rs781884773 |
374 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs150973687 CA36538516 |
375 | P>R | No |
ClinGen ESP TOPMed |
|
|
rs782097670 CA1362316 |
379 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA1362317 rs368719396 |
379 | N>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 381 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1396094779 CA344466933 |
381 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1362319 rs782502649 |
388 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782502649 CA344466979 |
388 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764844474 CA1362320 |
390 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1362321 rs764844474 |
390 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344467031 rs1553407773 |
395 | V>M | No |
ClinGen gnomAD |
|
|
CA36538525 rs954068163 |
397 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1553407780 CA344467054 |
398 | K>E | No |
ClinGen gnomAD |
|
|
rs1553407783 CA344467072 |
400 | D>G | No |
ClinGen gnomAD |
|
|
CA36538526 rs112969377 |
403 | R>M | No |
ClinGen Ensembl |
|
|
CA1362324 rs782580377 |
404 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs782489549 CA1362326 |
407 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA344467118 rs1448051673 |
407 | E>K | No |
ClinGen TOPMed |
|
|
rs372832789 CA1362327 |
408 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1553407796 CA344467143 |
410 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 415 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1362328 rs782253930 |
415 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344467192 rs1469978454 |
417 | P>H | No |
ClinGen TOPMed |
No associated diseases with Q8WWW0
4 regional properties for Q8WWW0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Ras-associating domain | 272 - 364 | IPR000159 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 122 - 171 | IPR002219 |
| domain | SARAH domain | 366 - 413 | IPR011524 |
| domain | Ras association domain-containing protein 5, RA domain | 207 - 362 | IPR033623 |
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| metal ion binding | Binding to a metal ion. |
| small GTPase binding | Binding to a small monomeric GTPase. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| lymphocyte proliferation | The expansion of a lymphocyte population by cell division. |
| negative regulation of lymphocyte proliferation | Any process that stops, prevents or reduces the rate or extent of lymphocyte proliferation. |
| positive regulation of protein ubiquitination | Any process that activates or increases the frequency, rate or extent of the addition of ubiquitin groups to a protein. |
| regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
| regulation of protein localization to nucleus | Any process that modulates the frequency, rate or extent of protein localization to nucleus. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6ZTQ3 | RASSF6 | Ras association domain-containing protein 6 | Homo sapiens (Human) | PR |
| Q9NS23 | RASSF1 | Ras association domain-containing protein 1 | Homo sapiens (Human) | PR |
| Q80UQ2 | Rassf6 | Ras association domain-containing protein 6 | Mus musculus (Mouse) | PR |
| Q99MK9 | Rassf1 | Ras association domain-containing protein 1 | Mus musculus (Mouse) | PR |
| Q5EBH1 | Rassf5 | Ras association domain-containing protein 5 | Mus musculus (Mouse) | PR |
| Q4QR82 | Rassf6 | Ras association domain-containing protein 6 | Rattus norvegicus (Rat) | PR |
| O35141 | Rassf5 | Ras association domain-containing protein 5 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAMASPAIGQ | RPYPLLLDPE | PPRYLQSLSG | PELPPPPPDR | SSRLCVPAPL | STAPGAREGR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SARRAARGNL | EPPPRASRPA | RPLRPGLQQR | LRRRPGAPRP | RDVRSIFEQP | QDPRVPAERG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EGHCFAELVL | PGGPGWCDLC | GREVLRQALR | CTNCKFTCHP | ECRSLIQLDC | SQQEGLSRDR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PSPESTLTVT | FSQNVCKPVE | ETQRPPTLQE | IKQKIDSYNT | REKNCLGMKL | SEDGTYTGFI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KVHLKLRRPV | TVPAGIRPQS | IYDAIKEVNL | AATTDKRTSF | YLPLDAIKQL | HISSTTTVSE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VIQGLLKKFM | VVDNPQKFAL | FKRIHKDGQV | LFQKLSIADR | PLYLRLLAGP | DTEVLSFVLK |
| 370 | 380 | 390 | 400 | 410 | |
| ENETGEVEWD | AFSIPELQNF | LTILEKEEQD | KIQQVQKKYD | KFRQKLEEAL | RESQGKPG |