Q9HAS0
PR
Gene name |
C17orf75 |
Protein name |
Protein Njmu-R1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64149 |
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 Q9HAS0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9HAS0-F1 | Predicted | AlphaFoldDB |
285 variants for Q9HAS0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA289448945 rs201322517 |
2 | L>H | No |
ClinGen gnomAD |
|
|
CA399044025 rs201322517 |
2 | L>P | No |
ClinGen gnomAD |
|
|
CA8492222 rs771324173 |
2 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1358069341 CA399044022 |
3 | P>A | No |
ClinGen gnomAD |
|
|
CA8492220 rs377043339 |
3 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8492219 rs377043339 |
3 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8492217 rs778625425 |
4 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1406565662 CA399044011 |
5 | L>S | No |
ClinGen gnomAD |
|
|
rs1161130330 CA399044006 |
6 | Q>E | No |
ClinGen gnomAD |
|
|
CA8492216 rs754516765 |
6 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA399044003 rs754516765 |
6 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA399043997 rs1174929085 |
7 | E>G | No |
ClinGen gnomAD |
|
|
rs753871531 CA8492215 |
7 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs914566266 CA289448923 |
8 | S>A | No |
ClinGen Ensembl |
|
|
CA289448922 rs771734049 |
8 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1192815686 CA399043983 |
9 | M>I | No |
ClinGen gnomAD |
|
|
CA399043969 rs1487308598 |
11 | G>E | No |
ClinGen gnomAD |
|
|
rs780174838 CA8492214 |
12 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA399043951 rs1451137991 |
14 | K>Q | No |
ClinGen gnomAD |
|
|
CA399043936 rs1216594067 |
15 | E>D | No |
ClinGen gnomAD |
|
|
CA399043943 rs1287928232 |
15 | E>K | No |
ClinGen gnomAD |
|
|
rs1318996993 CA399043921 |
18 | S>G | No |
ClinGen gnomAD |
|
|
CA399043902 rs1278039021 |
20 | E>G | No |
ClinGen gnomAD |
|
|
rs1217321808 CA399043892 |
21 | E>D | No |
ClinGen gnomAD |
|
|
CA399043873 rs1347873465 |
24 | S>L | No |
ClinGen gnomAD |
|
|
rs1182608501 CA399043871 |
25 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1182608501 CA399043872 |
25 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1348819292 CA399043847 |
28 | R>Q | No |
ClinGen gnomAD |
|
|
CA399043849 rs1436524614 |
28 | R>W | No |
ClinGen gnomAD |
|
|
CA399043840 rs1597738882 |
29 | R>S | No |
ClinGen Ensembl |
|
|
rs1466900130 CA399043836 |
30 | L>F | No |
ClinGen gnomAD |
|
|
rs1440083313 CA399043833 |
30 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 32 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763147068 CA399043815 |
33 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763147068 CA8492210 |
33 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8492208 rs370496487 |
34 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs759580692 CA399043808 |
35 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs759580692 CA8492207 |
35 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs116565498 CA8492206 |
35 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8492203 rs766891720 |
36 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1458427467 CA399043795 |
37 | H>Y | No |
ClinGen gnomAD |
|
|
rs1257679991 CA399043776 |
39 | C>Y | No |
ClinGen gnomAD |
|
|
CA399043765 rs1326138907 |
41 | Y>H | No |
ClinGen gnomAD |
|
|
CA8492202 rs761179376 |
43 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376978823 CA289448877 |
45 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs770412300 CA289448874 |
46 | S>R | No |
ClinGen Ensembl |
|
|
rs1272642032 CA399043724 |
47 | R>G | No |
ClinGen gnomAD |
|
|
rs755142261 CA8492188 |
48 | L>F | No |
ClinGen ExAC |
|
|
CA8492189 rs765473354 |
48 | L>M | No |
ClinGen ExAC TOPMed |
|
|
rs773748410 CA8492186 |
49 | A>E | No |
ClinGen ExAC |
|
|
CA8492184 rs773748410 |
49 | A>G | No |
ClinGen ExAC |
|
|
rs753921174 CA8492187 |
49 | A>S | No |
ClinGen ExAC |
|
|
rs773748410 CA8492185 |
49 | A>V | No |
ClinGen ExAC |
|
|
CA8492181 rs774810383 |
51 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768439753 CA399043687 |
52 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8492179 rs369651065 |
52 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399043679 rs1372226949 |
53 | G>V | No |
ClinGen TOPMed |
|
|
CA8492178 rs775204867 |
54 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 54 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769329668 CA8492177 |
55 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425848559 CA399043658 |
56 | E>D | No |
ClinGen gnomAD |
|
|
rs781152939 CA8492175 |
58 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757101433 CA8492174 |
59 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8492171 rs202086475 |
62 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8492172 rs202086475 |
62 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1353760253 CA399043613 |
63 | T>I | No |
ClinGen gnomAD |
|
|
rs1284765607 CA399043612 |
64 | N>D | No |
ClinGen gnomAD |
|
|
CA399043604 rs1567804692 |
65 | A>T | No |
ClinGen Ensembl |
|
|
CA399043580 rs1294424372 |
68 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA399043572 rs1323086972 |
70 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 71 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8492169 rs766419219 |
74 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA399043525 CA8492160 rs759209519 |
74 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399043514 rs759116992 |
76 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 76 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759116992 CA8492159 |
76 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265612659 CA399043502 |
78 | A>E | No |
ClinGen gnomAD |
|
|
rs865808911 CA399043500 |
79 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1018298955 CA289484093 |
79 | D>V | No |
ClinGen TOPMed |
|
|
rs865808911 CA289484110 |
79 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA399043482 rs1332374099 |
81 | N>K | No |
ClinGen gnomAD |
|
|
rs775953077 CA8492158 |
81 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA289484071 rs1005942132 |
82 | L>P | No |
ClinGen Ensembl |
|
|
CA399043480 rs1279931915 |
82 | L>V | No |
ClinGen gnomAD |
|
|
CA399043468 rs369286987 |
84 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369286987 CA289484055 |
84 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8492157 rs369286987 |
84 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs576304862 CA8492156 |
85 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777605001 CA8492155 |
86 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA289484045 rs988312008 |
86 | V>M | No |
ClinGen TOPMed |
|
|
rs1026176074 CA289484032 |
91 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs11557693 CA8492153 |
91 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA289484015 rs11557693 |
91 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA399043414 rs1301660975 |
93 | F>Y | No |
ClinGen TOPMed |
|
|
CA399043404 rs1567804139 |
94 | I>M | No |
ClinGen Ensembl |
|
|
CA8492152 rs563163507 |
97 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs756245421 CA8492151 |
97 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289484002 rs774086413 |
98 | L>V | No |
ClinGen Ensembl |
|
|
CA8492150 rs750531789 |
99 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs375962272 CA289483993 |
100 | R>G | No |
ClinGen ESP TOPMed |
|
|
rs1434373999 CA399043356 |
103 | V>L | No |
ClinGen gnomAD |
|
|
CA8492149 rs781068817 |
106 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs764597782 CA8492146 |
108 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs752096533 CA8492147 |
108 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1287836807 CA399043307 |
111 | A>S | No |
ClinGen TOPMed |
|
|
CA289483955 rs1008541459 |
112 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1331748073 CA399043299 |
112 | S>Y | No |
ClinGen gnomAD |
|
|
CA8492145 rs763374868 |
113 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA399043290 rs1438815711 |
114 | E>Q | No |
ClinGen gnomAD |
|
|
rs1046508235 CA289483934 |
116 | K>Q | No |
ClinGen gnomAD |
|
|
CA8492126 rs753119387 |
118 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 118 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs999543799 CA289482597 |
119 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs999543799 CA289482604 |
119 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA289482618 rs1017293290 |
119 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs890677320 CA289482592 |
121 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA399043236 rs754719284 |
121 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8492124 rs754719284 |
121 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754719284 CA8492125 |
121 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765915683 CA8492122 |
124 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 126 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1389187579 CA399043187 |
128 | L>R | No |
ClinGen TOPMed |
|
|
rs368437103 CA8492120 |
132 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8492119 rs767459452 |
133 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8492118 rs761593047 |
136 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8492117 rs774272514 |
138 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1399617693 CA399043115 |
139 | V>A | No |
ClinGen gnomAD |
|
|
rs1298207668 CA399043118 |
139 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 140 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746146528 CA8492115 |
140 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283109991 CA399043107 |
141 | I>V | No |
ClinGen TOPMed |
|
|
CA8492114 rs575690312 |
145 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8492113 rs374214863 |
145 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8492112 rs747106622 |
147 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 149 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1489264290 CA399043052 |
149 | E>G | No |
ClinGen gnomAD |
|
|
rs777939933 CA8492111 |
151 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1445383103 CA399043026 |
153 | C>Y | No |
ClinGen gnomAD |
|
|
rs897662991 CA289482473 |
158 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 161 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268129288 CA399042971 |
161 | G>E | No |
ClinGen gnomAD |
|
|
rs779384453 CA8492108 |
161 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA289482440 rs941744034 |
163 | E>G | No |
ClinGen TOPMed |
|
|
rs755267246 CA8492107 |
163 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 164 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8492096 rs771290988 |
167 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374564813 CA8492095 |
170 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA399042885 rs1323520538 |
171 | K>M | No |
ClinGen gnomAD |
|
|
rs370212702 CA8492093 |
172 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1478308479 CA399042872 |
173 | I>T | No |
ClinGen TOPMed |
|
|
CA8492091 rs779321918 |
173 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA399042867 rs1408207448 |
174 | Q>E | No |
ClinGen gnomAD |
|
|
rs551478621 CA8492089 |
175 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1251317655 CA399042828 |
179 | N>K | No |
ClinGen gnomAD |
|
|
CA8492088 rs755836284 |
180 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA8492087 rs755836284 |
180 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs971850233 CA399042820 |
181 | N>D | No |
ClinGen gnomAD |
|
|
rs971850233 CA289482164 |
181 | N>H | No |
ClinGen gnomAD |
|
|
CA8492086 rs750066007 |
181 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399042809 rs1392268397 |
182 | C>F | No |
ClinGen gnomAD |
|
|
CA8492076 rs761035435 |
185 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA399042776 rs1210860051 |
185 | R>S | No |
ClinGen gnomAD |
|
|
rs773538855 CA399042774 |
186 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8492075 rs773538855 |
186 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8492073 rs761823796 |
189 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399042735 rs1317083469 |
191 | I>M | No |
ClinGen gnomAD |
|
|
CA8492072 rs774433650 |
194 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA8492071 rs537329262 |
199 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780458674 CA8492069 |
201 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289480328 rs1021914459 |
203 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs770126394 CA8492068 |
203 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA399042646 rs1597734397 |
204 | C>S | No |
ClinGen Ensembl |
|
|
rs1300050223 CA399042638 |
205 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA399042640 rs1300050223 |
205 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA399042636 rs1420388449 |
206 | I>V | No |
ClinGen gnomAD |
|
|
rs993949276 CA289480326 |
207 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756883376 CA8492066 |
208 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399042619 rs1415031715 |
208 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8492064 rs751041422 |
209 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 214 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8492062 rs777269766 |
222 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1213260704 CA399042486 |
222 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8492043 rs372303554 |
227 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399042338 rs1460176427 |
229 | P>A | No |
ClinGen gnomAD |
|
|
CA8492041 rs779016175 |
230 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1171999420 CA399042294 |
232 | V>D | No |
ClinGen gnomAD |
|
| TCGA novel | 234 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754907079 CA8492040 |
237 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA399042218 rs1371854649 |
238 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8492039 rs753691500 |
240 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA8492038 rs757482204 |
241 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751787545 CA8492035 |
242 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 243 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215631899 CA399042137 |
243 | I>S | No |
ClinGen TOPMed |
|
|
rs778502688 CA8492019 |
246 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs749239338 CA8492018 |
248 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA289479607 rs1127742 |
250 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs779766504 CA8492016 |
250 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1127742 CA8492015 |
250 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1597733863 CA399041987 |
251 | S>R | No |
ClinGen Ensembl |
|
|
rs767243043 CA289479601 |
257 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1238732920 CA399041886 |
259 | G>V | No |
ClinGen gnomAD |
|
|
rs1017151874 CA289479600 |
260 | T>P | No |
ClinGen Ensembl |
|
|
CA8492014 rs182533138 |
264 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8492013 rs764395826 |
266 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399041790 rs1413014954 |
267 | A>T | No |
ClinGen TOPMed |
|
|
rs1432339373 CA399041778 |
268 | M>V | No |
ClinGen gnomAD |
|
|
rs1386613383 CA399041762 |
269 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA399041749 rs1469421340 |
270 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA399041748 rs1469421340 |
270 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs752776532 CA8492011 |
271 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1475457740 CA399041704 |
273 | H>N | No |
ClinGen gnomAD |
|
|
CA399041687 rs1256737682 |
274 | K>T | No |
ClinGen gnomAD |
|
|
rs1489330634 CA399041652 |
277 | V>I | No |
ClinGen gnomAD |
|
|
CA289479534 rs368181633 |
279 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368181633 CA8492009 |
279 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766693751 CA8492007 |
280 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1288317752 CA399041609 |
282 | S>R | No |
ClinGen TOPMed |
|
|
rs1034318460 CA289479514 |
282 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs558393012 CA8492006 |
283 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8492005 rs773392379 |
286 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1000211226 CA289479496 |
286 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA289479492 rs904750368 |
288 | C>G | No |
ClinGen TOPMed |
|
|
rs1318557771 CA399041565 |
288 | C>S | No |
ClinGen gnomAD |
|
|
rs1399825030 CA399041537 |
290 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8491983 rs750868562 |
292 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA399041405 rs1251600326 |
293 | N>K | No |
ClinGen gnomAD |
|
|
CA8491981 rs368558604 |
294 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs767983788 CA8491982 |
294 | R>W | Variant assessed as Somatic; 4.658e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774119199 CA8491980 |
295 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs532151548 CA8491979 |
298 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762542544 CA8491978 |
301 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334496248 CA399041277 |
302 | A>V | No |
ClinGen gnomAD |
|
|
rs774801739 CA8491977 |
303 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1412501396 CA399041248 |
305 | N>H | No |
ClinGen TOPMed |
|
|
CA399041205 rs1422251488 |
307 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA399041184 rs1444124589 |
309 | G>E | No |
ClinGen gnomAD |
|
|
CA8491976 rs543645372 |
309 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 313 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399041125 rs1354985795 |
314 | L>I | No |
ClinGen gnomAD |
|
|
rs1328133625 CA399041097 |
316 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs745786199 CA399041091 |
316 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745786199 CA8491975 |
316 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375913041 CA8491973 |
318 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA399041065 rs1393519455 |
319 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 321 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8491970 rs755097651 |
321 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 324 | L>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 324 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753957093 CA8491969 |
324 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA399040749 rs1358240874 |
327 | I>T | No |
ClinGen gnomAD |
|
|
rs1210915517 CA399040704 |
329 | D>E | No |
ClinGen gnomAD |
|
|
rs1485075091 CA399040640 |
333 | L>W | No |
ClinGen gnomAD |
|
|
rs768990260 CA8491952 |
335 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA399040556 rs372489024 |
338 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8491950 rs372489024 |
338 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs971291089 CA289477245 |
342 | M>R | No |
ClinGen gnomAD |
|
|
CA289477224 rs1045239008 |
352 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1012875675 CA289477193 |
359 | S>G | No |
ClinGen Ensembl |
|
|
rs745905918 CA8491948 |
359 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399040258 rs745905918 |
359 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8491946 rs757776758 |
361 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399040225 rs1157302764 |
362 | I>K | No |
ClinGen gnomAD |
|
|
rs1247144820 CA399040220 |
363 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 364 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368821944 CA8491944 |
366 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751973701 CA8491945 |
366 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs915407857 CA289477135 |
367 | V>A | No |
ClinGen TOPMed |
|
|
CA8491941 rs752266903 |
370 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8491942 rs758125219 |
370 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8491940 rs764841763 |
371 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399040125 rs1263065340 |
377 | A>T | No |
ClinGen TOPMed |
|
|
CA8491939 rs369641164 |
382 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1206548990 CA399040066 |
384 | L>F | No |
ClinGen gnomAD |
|
|
CA399040060 rs1336729349 |
385 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA399040059 rs1336729349 |
385 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 386 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399040026 rs1445524509 |
389 | K>E | No |
ClinGen TOPMed |
|
|
rs1424122394 CA399040019 |
390 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs911554018 CA289477078 |
390 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1567801314 CA399040012 |
391 | A>T | No |
ClinGen Ensembl |
|
|
rs766308459 CA8491937 |
393 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8491936 rs546486052 |
395 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399039979 rs1159004607 |
395 | S>R | No |
ClinGen TOPMed |
|
|
CA289477063 rs987130045 |
397 | F>S | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9HAS0
No regional properties for Q9HAS0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9HAS0 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| trans-Golgi network | The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| 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 tethering to Golgi | The initial, indirect interaction between a transport vesicle membrane and the membrane of the Golgi. This interaction is mediated by tethering factors (or complexes), which interact with both membranes. Interaction can occur via direct binding to membrane phospholipids or membrane proteins, or via binding to vesicle coat proteins. This process is distinct from and prior fusion. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9CYI0 | Protein Njmu-R1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLPSLQESMD | GDEKELESSE | EGGSAEERRL | EPPSSSHYCL | YSYRGSRLAQ | QRGDSEDGSP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SGTNAETPSG | DDFSLSLADT | NLPSEVEPEL | RSFIAKRLSR | GAVFEGLGNV | ASVELKIPGY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RVGCYYCLFQ | NEKLLPETVT | IDSERNPSEY | VVCFLGGSEK | GLELFRLELD | KYIQGLKNNM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NCEARGLESH | IKSYLSSWFE | DVVCPIQRVV | LLFQEKLTFL | LHAALSYTPV | EVKESDEKTK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RDINRFLSVA | SLQGLIHEGT | MTSLCMAMTE | EQHKSVVIDC | SSSQPQFCNA | GSNRFCEDWM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QAFLNGAKGG | NPFLFRQVLE | NFKLKAIQDT | NNLKRFIRQA | EMNHYALFKC | YMFLKNCGSG |
| 370 | 380 | 390 | |||
| DILLKIVKVE | HEEMPEAKNV | IAVLEEFMKE | ALDQSF |