Q969Q4
PR
Gene name |
ARL11 (ARLTS1) |
Protein name |
ADP-ribosylation factor-like protein 11 |
Names |
ADP-ribosylation factor-like tumor suppressor protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:115761 |
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 Q969Q4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q969Q4-F1 | Predicted | AlphaFoldDB |
195 variants for Q969Q4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs201791650 CA6983068 |
4 | V>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6983067 rs772364057 |
4 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1369947113 CA388192340 |
6 | S>F | No |
ClinGen gnomAD |
|
|
CA388192407 rs1271815383 |
9 | H>P | No |
ClinGen gnomAD |
|
|
rs12584992 CA249369357 |
10 | K>N | No |
ClinGen gnomAD |
|
|
COSM3417647 rs566163670 CA6983069 |
11 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA388192555 rs1469469563 |
14 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6983071 rs751603349 |
14 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370668058 CA6983073 |
16 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388192726 rs1475383091 |
18 | M>I | No |
ClinGen gnomAD |
|
|
rs758066262 CA6983075 |
18 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388192761 rs1166167152 |
19 | G>V | No |
ClinGen gnomAD |
|
|
CA388192805 rs1462086461 |
21 | D>A | No |
ClinGen gnomAD |
|
|
CA6983076 rs777360422 |
21 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6983078 rs147389782 |
22 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6983077 rs147389782 VAR_023742 |
22 | S>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs769707452 CA388192866 |
23 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6983081 rs769707452 COSM432471 |
23 | A>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs536056437 CA6983083 |
24 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771958819 CA249369383 |
26 | T>P | No |
ClinGen Ensembl |
|
|
COSM190487 CA388192936 rs1394373519 |
27 | T>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA388192951 rs1311937193 |
28 | L>P | No |
ClinGen gnomAD |
|
|
rs576032054 CA249369390 |
30 | Y>C | No |
ClinGen 1000Genomes |
|
|
CA6983087 rs201132357 |
32 | L>P | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 34 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776703350 CA6983088 |
34 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA388193018 rs1414929363 |
38 | V>A | No |
ClinGen TOPMed |
|
|
CA6983089 rs759972408 |
39 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201969290 CA6983090 |
40 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1468766993 CA388193027 |
40 | T>P | No |
ClinGen TOPMed |
|
|
CA6983092 rs763346893 |
42 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420702453 CA388193052 |
44 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 45 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388193055 rs1338502851 |
45 | G>R | No |
ClinGen TOPMed |
|
|
CA388193054 rs1338502851 |
45 | G>S | No |
ClinGen TOPMed |
|
|
CA388193074 rs751269133 |
47 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566301710 CA388193077 |
48 | V>E | No |
ClinGen Ensembl |
|
|
rs756928549 CA6983096 |
48 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6983095 rs756928549 |
48 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415880073 CA388193084 |
49 | E>G | No |
ClinGen gnomAD |
|
|
rs1290304131 CA388193082 |
49 | E>K | No |
ClinGen TOPMed |
|
|
rs1566301716 CA388193096 |
51 | L>R | No |
ClinGen Ensembl |
|
|
rs996300560 CA249369409 |
53 | A>T | No |
ClinGen TOPMed |
|
|
CA388193121 rs1455540602 |
54 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6983097 rs749892930 |
57 | V>M | No |
ClinGen ExAC gnomAD |
|
|
COSM947898 CA249369417 rs958511445 |
61 | L>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1357327382 CA388193288 |
64 | V>A | No |
ClinGen gnomAD |
|
|
CA6983099 rs143660006 COSM1367379 |
64 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6983101 rs117251022 |
65 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388193301 rs117251022 |
65 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6983100 rs117251022 |
65 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388193314 rs1332128095 |
66 | G>E | No |
ClinGen gnomAD |
|
|
CA6983102 rs778840264 |
66 | G>R | No |
ClinGen ExAC gnomAD |
|
| rs1324509298 | 67 | Q>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388193334 rs1566301752 |
67 | Q>L | No |
ClinGen Ensembl |
|
|
CA6983103 rs747265258 |
68 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113027020 CA6983105 |
69 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771123171 CA6983104 |
69 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388193392 rs1187226142 |
71 | R>K | No |
ClinGen gnomAD |
|
|
rs1255483525 CA388193402 |
71 | R>S | No |
ClinGen gnomAD |
|
|
CA388193426 rs1566301777 |
73 | S>N | No |
ClinGen Ensembl |
|
|
rs776025417 CA6983109 |
74 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs763436324 CA6983110 |
77 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA388193527 rs1156640192 |
78 | L>R | No |
ClinGen gnomAD |
|
|
rs149745507 CA6983111 |
78 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761386601 CA6983113 |
79 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA388193541 rs1435268015 |
79 | E>G | No |
ClinGen gnomAD |
|
|
rs767150266 CA6983114 |
80 | G>S | No |
ClinGen ExAC |
|
| TCGA novel | 82 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388193572 rs1392676444 |
83 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA388193590 rs1360753264 |
84 | L>P | No |
ClinGen gnomAD |
|
|
CA388193606 rs1237259832 |
85 | V>A | No |
ClinGen gnomAD |
|
|
rs374531869 CA6983117 |
85 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1367382 CA6983116 rs374531869 |
85 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA388193630 rs377295532 |
86 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370030859 CA6983119 |
87 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA249369444 COSM1514074 rs867820824 |
89 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs200663291 CA6983120 |
91 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6983121 rs747926100 |
91 | T>I | No |
ClinGen ExAC TOPMed |
|
|
rs757447757 CA6983122 |
92 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 92 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 93 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781514079 CA6983123 |
94 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs544417615 CA6983124 |
95 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6983125 rs769920049 |
95 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176478777 CA388193769 |
96 | L>S | No |
ClinGen gnomAD |
|
|
CA6983128 rs769095684 |
98 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774603360 CA6983129 |
99 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772293845 CA388193836 |
100 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772293845 CA6983131 |
100 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388193906 rs1216934556 |
103 | L>P | No |
ClinGen TOPMed |
|
|
CA388193911 rs1485136473 |
104 | T>P | No |
ClinGen TOPMed |
|
|
CA6983136 rs759566544 |
109 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753334860 CA6983135 |
109 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs532945151 CA6983137 |
110 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6983138 rs752542486 |
111 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1301834194 CA388194041 |
111 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761431152 CA6983139 |
112 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777416619 CA388194066 |
113 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs777416619 CA6983140 |
113 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6983141 rs750723672 |
113 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA388194077 rs1479737976 |
114 | G>S | No |
ClinGen gnomAD |
|
|
CA388194098 rs1253922375 |
115 | V>D | No |
ClinGen gnomAD |
|
|
CA388194101 rs1253922375 |
115 | V>G | No |
ClinGen gnomAD |
|
|
CA249369481 rs994780789 |
115 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs780120181 CA6983143 |
119 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA249369488 VAR_048318 rs35712316 |
120 | L>M | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA388194180 rs868285879 |
121 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA249369492 rs868285879 |
121 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1171133622 CA388194201 |
122 | N>K | No |
ClinGen gnomAD |
|
|
rs1031176774 CA249369494 |
125 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA388194255 rs1463649160 |
125 | E>G | No |
ClinGen gnomAD |
|
|
rs1371983031 CA388194247 |
125 | E>Q | No |
ClinGen gnomAD |
|
|
CA6983145 rs769184018 |
126 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866872755 CA249369498 |
127 | P>L | No |
ClinGen Ensembl |
|
|
CA6983146 rs779514414 |
129 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6983147 rs748581908 |
129 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA388194312 rs1566301940 |
130 | L>F | No |
ClinGen Ensembl |
|
|
VAR_023743 rs147120792 CA6983148 |
131 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA388194330 rs147120792 |
131 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770655477 CA6983151 |
133 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA388194365 rs1235262427 |
134 | K>E | No |
ClinGen gnomAD |
|
|
CA388194363 rs1235262427 |
134 | K>Q | No |
ClinGen gnomAD |
|
|
CA6983152 rs776309613 |
134 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA388194393 rs1334456532 |
135 | I>M | No |
ClinGen gnomAD |
|
|
CA6983153 rs759152923 |
136 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs970805802 CA249369500 |
137 | N>H | No |
ClinGen Ensembl |
|
|
rs764627150 CA6983154 |
137 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752737224 CA6983155 |
138 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388194432 rs1187009656 |
138 | R>K | No |
ClinGen gnomAD |
|
|
CA249369501 rs766738083 |
139 | L>P | No |
ClinGen Ensembl |
|
|
CA388194462 rs1594391878 |
140 | S>N | No |
ClinGen Ensembl |
|
|
CA249369502 rs923965064 |
142 | E>G | No |
ClinGen gnomAD |
|
|
rs762794413 CA6983156 |
142 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6983157 rs763952974 |
144 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6983158 rs751295835 |
145 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA388194604 rs567358654 |
148 | C>* | No |
ClinGen 1000Genomes gnomAD |
|
|
CA388194594 rs3803185 |
148 | C>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6983160 VAR_023744 rs3803185 |
148 | C>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs567358654 CA249369507 |
148 | C>W | No |
ClinGen 1000Genomes gnomAD |
|
|
RCV000948924 CA6983161 COSM4147728 rs34301344 |
149 | W>* | thyroid [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs755100942 CA6983162 COSM4147728 |
149 | W>* | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 150 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867095637 CA249369509 |
150 | E>K | No |
ClinGen Ensembl |
|
|
rs1339136847 CA388194654 |
151 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA249369511 rs915492243 |
152 | R>Q | No |
ClinGen gnomAD |
|
|
rs778849305 CA6983163 COSM947899 |
152 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6983164 rs748760701 |
153 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758766792 CA6983165 |
154 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758766792 CA388194683 |
154 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388194710 rs1286667760 |
155 | S>R | No |
ClinGen gnomAD |
|
|
CA6983166 rs778216279 |
156 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6983167 rs747335286 |
157 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA388194748 rs1396778377 |
158 | T>N | No |
ClinGen TOPMed |
|
|
CA388194765 rs1395927294 |
160 | E>A | No |
ClinGen TOPMed |
|
|
rs551214371 CA6983169 |
160 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 163 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6983170 rs745498908 |
163 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1171214636 CA388194823 |
164 | E>A | No |
ClinGen TOPMed |
|
|
CA6983172 COSM1238229 VAR_023745 rs146850453 |
164 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA388194813 rs146850453 |
164 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs911644636 CA249369523 |
165 | A>D | No |
ClinGen TOPMed |
|
|
rs911644636 CA249369521 |
165 | A>G | No |
ClinGen TOPMed |
|
|
CA6983173 rs762961641 |
167 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA388194950 rs1409762273 |
167 | Q>P | No |
ClinGen gnomAD |
|
|
CA388195023 rs1158867167 |
169 | L>R | No |
ClinGen gnomAD |
|
|
rs774163543 CA6983175 |
170 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA388195154 rs1354877624 |
173 | L>Q | No |
ClinGen gnomAD |
|
|
rs767279791 CA6983177 |
176 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6983179 rs140526352 |
176 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6983178 rs140526352 |
176 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388195325 rs1594392012 |
178 | C>Y | No |
ClinGen Ensembl |
|
|
rs1566302128 CA388195367 |
179 | M>I | No |
ClinGen Ensembl |
|
|
CA6983181 rs752665403 |
179 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752665403 CA388195362 |
179 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765365695 CA6983180 |
179 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs758972109 COSM1188716 CA6983182 |
182 | Q>* | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6983183 rs115070474 |
183 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6983184 rs115070474 |
183 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6983186 rs781685676 |
184 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA6983187 rs745519193 |
185 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs114223009 CA6983190 |
186 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6983189 rs115584350 |
186 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6983192 rs369303916 |
190 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6983193 rs574095059 |
190 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs562619284 CA6983195 |
191 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200112422 CA6983196 |
192 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577463512 CA249369559 |
192 | D>H | No |
ClinGen 1000Genomes |
|
|
rs765332310 CA388195761 |
193 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765332310 CA6983197 |
193 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480613829 CA388195764 |
193 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA388195759 rs765332310 |
193 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6983198 rs35835937 |
194 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1441750086 CA388195777 |
194 | K>R | No |
ClinGen gnomAD |
|
|
CA388195796 rs1458149068 |
195 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
1 associated diseases with Q969Q4
[MIM: 151400]: Leukemia, chronic lymphocytic (CLL)
A chronic leukemia in which functionally incompetent B-lymphocytes progressively accumulate in the bone marrow, blood, and lymphoid tissues. The clinical evolution of the disorder is heterogeneous, with some patients having indolent disease and others having aggressive disease and short survival. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Without disease ID
- A chronic leukemia in which functionally incompetent B-lymphocytes progressively accumulate in the bone marrow, blood, and lymphoid tissues. The clinical evolution of the disorder is heterogeneous, with some patients having indolent disease and others having aggressive disease and short survival. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
1 regional properties for Q969Q4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Small GTP-binding protein domain | 12 - 128 | IPR005225 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
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 |
|---|---|
| hematopoietic progenitor cell differentiation | The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. |
| 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. |
| vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
48 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2KJ96 | ARL5A | ADP-ribosylation factor-like protein 5A | Bos taurus (Bovine) | SS |
| P84081 | ARF2 | ADP-ribosylation factor 2 | Bos taurus (Bovine) | SS |
| P84080 | ARF1 | ADP-ribosylation factor 1 | Bos taurus (Bovine) | SS |
| Q3SZF2 | ARF4 | ADP-ribosylation factor 4 | Bos taurus (Bovine) | SS |
| Q0VC18 | ARL4D | ADP-ribosylation factor-like protein 4D | Bos taurus (Bovine) | PR |
| P49702 | ARF5 | ADP-ribosylation factor 5 | Gallus gallus (Chicken) | SS |
| P40945 | Arf4 | ADP ribosylation factor 4 | Drosophila melanogaster (Fruit fly) | SS |
| P61209 | Arf1 | ADP-ribosylation factor 1 | Drosophila melanogaster (Fruit fly) | SS |
| A6NH57 | ARL5C | Putative ADP-ribosylation factor-like protein 5C | Homo sapiens (Human) | SS |
| P18085 | ARF4 | ADP-ribosylation factor 4 | Homo sapiens (Human) | EV |
| P49703 | ARL4D | ADP-ribosylation factor-like protein 4D | Homo sapiens (Human) | PR |
| P84077 | ARF1 | ADP-ribosylation factor 1 | Homo sapiens (Human) | EV |
| P84085 | ARF5 | ADP-ribosylation factor 5 | Homo sapiens (Human) | EV |
| Q8N4G2 | ARL14 | ADP-ribosylation factor-like protein 14 | Homo sapiens (Human) | SS |
| Q96KC2 | ARL5B | ADP-ribosylation factor-like protein 5B | Homo sapiens (Human) | SS |
| P62330 | ARF6 | ADP-ribosylation factor 6 | Homo sapiens (Human) | EV |
| Q8IVW1 | ARL17A | ADP-ribosylation factor-like protein 17 | Homo sapiens (Human) | SS |
| Q9H0F7 | ARL6 | ADP-ribosylation factor-like protein 6 | Homo sapiens (Human) | SS |
| P40616 | ARL1 | ADP-ribosylation factor-like protein 1 | Homo sapiens (Human) | SS |
| P61204 | ARF3 | ADP-ribosylation factor 3 | Homo sapiens (Human) | EV |
| Q9Y689 | ARL5A | ADP-ribosylation factor-like protein 5A | Homo sapiens (Human) | SS |
| P49076 | ARF1 | ADP-ribosylation factor | Zea mays (Maize) | SS |
| P84084 | Arf5 | ADP-ribosylation factor 5 | Mus musculus (Mouse) | SS |
| P61750 | Arf4 | ADP-ribosylation factor 4 | Mus musculus (Mouse) | SS |
| Q99PE9 | Arl4d | ADP-ribosylation factor-like protein 4D | Mus musculus (Mouse) | PR |
| Q6P068 | Arl5c | ADP-ribosylation factor-like protein 5C | Mus musculus (Mouse) | SS |
| Q80ZU0 | Arl5a | ADP-ribosylation factor-like protein 5A | Mus musculus (Mouse) | SS |
| P61205 | Arf3 | ADP-ribosylation factor 3 | Mus musculus (Mouse) | SS |
| Q9D4P0 | Arl5b | ADP-ribosylation factor-like protein 5B | Mus musculus (Mouse) | SS |
| P84078 | Arf1 | ADP-ribosylation factor 1 | Mus musculus (Mouse) | SS |
| Q8BSL7 | Arf2 | ADP-ribosylation factor 2 | Mus musculus (Mouse) | SS |
| P51824 | ADP-ribosylation factor 1 | Solanum tuberosum (Potato) | SS | |
| P84082 | Arf2 | ADP-ribosylation factor 2 | Rattus norvegicus (Rat) | SS |
| P51646 | Arl5a | ADP-ribosylation factor-like protein 5A | Rattus norvegicus (Rat) | SS |
| P84083 | Arf5 | ADP-ribosylation factor 5 | Rattus norvegicus (Rat) | SS |
| P36407 | Trim23 | E3 ubiquitin-protein ligase TRIM23 | Rattus norvegicus (Rat) | SS |
| P61751 | Arf4 | ADP-ribosylation factor 4 | Rattus norvegicus (Rat) | SS |
| P61206 | Arf3 | ADP-ribosylation factor 3 | Rattus norvegicus (Rat) | SS |
| P84079 | Arf1 | ADP-ribosylation factor 1 | Rattus norvegicus (Rat) | SS |
| P51823 | ARF | ADP-ribosylation factor 2 | Oryza sativa subsp. japonica (Rice) | SS |
| Q06396 | Os01g0813400 | ADP-ribosylation factor 1 | Oryza sativa subsp. japonica (Rice) | SS |
| Q10943 | arf-1.2 | ADP-ribosylation factor 1-like 2 | Caenorhabditis elegans | SS |
| P34212 | arl-5 | ADP-ribosylation factor-like protein 5 | Caenorhabditis elegans | SS |
| P40940 | ARF3 | ADP-ribosylation factor 3 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| P36397 | ARF1 | ADP-ribosylation factor 1 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| P0DH91 | ARF2-B | ADP-ribosylation factor 2-B | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9LQC8 | ARF2-A | ADP-ribosylation factor 2-A | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q5M9P8 | arl6 | ADP-ribosylation factor-like protein 6 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGSVNSRGHK | AEAQVVMMGL | DSAGKTTLLY | KLKGHQLVET | LPTVGFNVEP | LKAPGHVSLT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LWDVGGQAPL | RASWKDYLEG | TDILVYVLDS | TDEARLPESA | AELTEVLNDP | NMAGVPFLVL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ANKQEAPDAL | PLLKIRNRLS | LERFQDHCWE | LRGCSALTGE | GLPEALQSLW | SLLKSRSCMC |
| 190 | |||||
| LQARAHGAER | GDSKRS |