A6H8Z2
PR
Gene name |
FAM221B (C9orf128) |
Protein name |
Protein FAM221B |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:392307 |
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 A6H8Z2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A6H8Z2-F1 | Predicted | AlphaFoldDB |
327 variants for A6H8Z2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA192793493 rs267602231 |
2 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs764953442 CA5053203 |
4 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5053204 rs77290379 |
4 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1213092296 CA373407963 |
5 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA192793492 rs964983518 |
6 | I>T | No |
ClinGen TOPMed |
|
|
rs1487551916 CA373407947 |
6 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs374896227 CA5053202 |
7 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1041176147 CA192793491 |
8 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs753385887 CA5053201 |
9 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs530156720 CA5053200 |
10 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1230391799 CA373407890 |
11 | H>R | No |
ClinGen gnomAD |
|
|
rs760241245 CA5053199 |
12 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5053198 rs774683145 |
13 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771494853 CA373407859 |
14 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA5053196 rs771494853 |
14 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs771494853 CA192793470 |
14 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs763202031 CA5053194 |
15 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373407807 rs773604049 |
18 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373407814 rs1352440603 |
18 | K>Q | No |
ClinGen gnomAD |
|
|
CA373407804 rs1437380264 |
19 | H>D | No |
ClinGen TOPMed |
|
|
CA373407798 rs1432041234 |
19 | H>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1138001 CA373407786 COSM487447 rs1177191146 |
21 | P>A | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA5053192 rs546166280 |
21 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs1323115063 | 21 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5053191 rs546166280 |
21 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776851327 CA5053190 |
26 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1313949257 CA373407714 |
28 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs768551288 CA5053189 |
30 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA373407673 rs1163573799 |
31 | Q>* | No |
ClinGen TOPMed |
|
|
rs747142375 CA5053188 |
32 | E>G | No |
ClinGen ExAC gnomAD |
|
|
VAR_061598 rs13294256 CA5053186 |
34 | H>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs779835888 CA5053187 |
34 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5053183 rs368225442 |
35 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5053184 rs745654345 |
35 | I>V | No |
ClinGen ExAC |
|
|
CA5053182 rs757135000 |
37 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230973551 CA373407587 |
39 | F>Y | No |
ClinGen gnomAD |
|
|
rs1313929187 CA373407574 |
40 | L>S | No |
ClinGen gnomAD |
|
|
rs13294245 VAR_061599 CA5053181 |
41 | K>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA373407555 rs1370663525 |
42 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs543860360 CA5053180 |
42 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373407541 rs1371550637 |
43 | S>Y | No |
ClinGen gnomAD |
|
|
rs1341357873 CA373407534 |
44 | T>A | No |
ClinGen TOPMed |
|
|
rs1435930418 CA373407531 |
44 | T>N | No |
ClinGen gnomAD |
|
|
CA5053178 rs565337133 |
45 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1214665597 CA373407523 |
45 | S>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 46 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763513946 CA5053176 |
47 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs199751011 CA5053175 |
48 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199751011 CA192793372 |
48 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5053172 rs776675615 |
50 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs762170644 CA5053173 |
50 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462099029 CA373407466 |
51 | P>T | No |
ClinGen TOPMed |
|
|
rs896447425 CA192793346 |
53 | T>A | No |
ClinGen TOPMed |
|
|
CA373407428 rs1237634739 |
54 | S>Y | No |
ClinGen gnomAD |
|
|
rs1055125591 CA192793339 |
56 | S>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 57 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5053170 rs768943210 |
57 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA373407387 CA373407385 rs1354484623 |
59 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5053168 rs775707469 |
61 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373407358 rs1178927852 |
62 | P>S | No |
ClinGen TOPMed |
|
|
rs745744010 CA5053166 |
64 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs779001909 CA5053165 |
68 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5053163 rs749120802 |
72 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA5053162 rs777272783 |
74 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5053161 rs755828636 |
76 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA5053160 rs201582776 |
78 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373407182 rs1256685589 |
80 | I>N | No |
ClinGen gnomAD |
|
|
rs767109073 CA5053159 |
81 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5053158 rs754494521 |
84 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754494521 CA373407145 |
84 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192793233 rs941850395 |
86 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA373407104 rs1190376910 |
88 | P>L | No |
ClinGen gnomAD |
|
|
CA5053156 rs765763890 |
88 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1447107368 CA373407073 |
92 | A>D | No |
ClinGen gnomAD |
|
|
rs762115477 CA5053155 |
92 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA192793218 rs762115477 |
92 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5053154 rs199561078 |
93 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA5053151 rs775589272 |
94 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA5053152 rs775589272 |
94 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA373407051 rs1313971170 |
95 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 96 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5053149 rs772215249 |
96 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1023302948 CA192793194 |
96 | S>R | No |
ClinGen Ensembl |
|
|
CA5053148 rs759725263 |
98 | I>L | No |
ClinGen ExAC |
|
|
CA373407000 rs1263416875 |
100 | V>M | No |
ClinGen TOPMed |
|
|
rs1588097229 CA373406986 |
101 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 103 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373406962 rs1390215260 |
104 | K>E | No |
ClinGen gnomAD |
|
|
rs771043968 CA5053146 |
106 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA373406933 rs1473933499 |
107 | T>A | No |
ClinGen gnomAD |
|
|
CA373406918 rs1368812523 |
108 | L>P | No |
ClinGen gnomAD |
|
|
CA373406900 rs1200263685 |
110 | P>L | No |
ClinGen TOPMed |
|
|
rs777687946 CA373406907 |
110 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5053144 rs777687946 |
110 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769313709 CA5053143 |
112 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200228800 CA5053142 |
113 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5053141 rs370995357 |
113 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5053140 rs201562353 |
117 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1228167417 CA373406818 |
119 | S>P | No |
ClinGen gnomAD |
|
|
CA5053135 rs779368753 |
122 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA373406773 rs1435819903 |
123 | T>A | No |
ClinGen gnomAD |
|
|
CA373406765 rs1183598550 |
124 | L>V | No |
ClinGen Ensembl |
|
|
rs187463739 CA5053133 |
127 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5053134 rs757829447 |
127 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA192793099 rs902720668 |
128 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1407269323 CA373406677 |
129 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA373406603 rs1391772092 |
134 | S>F | No |
ClinGen gnomAD |
|
|
rs1427608646 CA373406593 |
135 | N>S | No |
ClinGen gnomAD |
|
|
CA373406516 rs1189149593 |
140 | T>K | No |
ClinGen gnomAD |
|
|
rs1244462923 CA373406484 |
142 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA373406399 rs1388585297 |
147 | S>F | No |
ClinGen gnomAD |
|
|
rs1249408399 CA373406378 |
149 | S>Y | No |
ClinGen gnomAD |
|
|
CA5053129 rs201425299 |
151 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA192793067 rs1049770753 |
152 | L>P | No |
ClinGen gnomAD |
|
|
CA192793052 rs537497131 |
155 | H>L | No |
ClinGen 1000Genomes |
|
|
rs774616330 CA5053127 |
155 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1344982593 CA373406222 |
159 | G>R | No |
ClinGen gnomAD |
|
|
rs763002885 CA5053125 |
164 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs931862343 CA192793027 |
166 | V>A | No |
ClinGen TOPMed |
|
|
rs931862343 CA192793043 |
166 | V>E | No |
ClinGen TOPMed |
|
| TCGA novel | 167 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1407694506 CA373406096 |
167 | D>N | No |
ClinGen gnomAD |
|
|
rs1013714518 CA192793023 |
168 | T>I | No |
ClinGen TOPMed |
|
|
CA5053122 rs79210384 |
170 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373405989 rs1224853940 |
172 | Q>R | No |
ClinGen TOPMed |
|
|
CA5053121 rs780775095 |
173 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA373405958 rs1423027611 |
174 | E>K | No |
ClinGen gnomAD |
|
|
CA192793002 rs766706252 |
176 | A>T | No |
ClinGen Ensembl |
|
|
rs374974977 CA5053120 |
178 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5053119 rs746490281 |
180 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA5053118 rs779597219 |
183 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs375534080 CA5053117 |
184 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1254388548 CA373405774 |
185 | A>T | No |
ClinGen gnomAD |
|
|
rs778177155 CA5053115 |
186 | S>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs756455271 CA5053114 |
187 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA5053113 rs753055882 |
188 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA192792932 rs907721681 |
188 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs759900623 CA5053111 |
192 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5053110 rs751671992 |
195 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA192792915 rs905793541 |
195 | P>S | No |
ClinGen TOPMed |
|
|
rs1163642991 CA373405508 |
202 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM186463 CA373405493 rs943024291 |
204 | R>C | Variant assessed as Somatic; 4.663e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA192792799 rs943024291 |
204 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM1598319 COSM1108841 CA5053093 rs781726259 |
204 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1184017604 CA373405472 |
206 | V>A | No |
ClinGen gnomAD |
|
|
CA5053092 rs755402844 |
207 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5053091 rs751761954 |
208 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186700804 CA373405453 |
208 | P>L | No |
ClinGen gnomAD |
|
|
rs766735707 CA5053090 |
210 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs758454622 CA5053089 |
211 | Q>* | No |
ClinGen ExAC |
|
| TCGA novel | 213 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373405402 rs1320190812 |
214 | L>P | No |
ClinGen gnomAD |
|
|
rs761721887 CA5053086 |
216 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5053085 rs776564517 |
217 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5053084 rs763811718 |
219 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs550311048 CA5053083 |
219 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1292495138 CA373405312 |
221 | M>I | No |
ClinGen gnomAD |
|
|
rs775078534 CA5053082 |
221 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5053079 rs773803368 |
222 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5053080 rs745356093 |
222 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs375124029 CA5053081 |
222 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748604614 CA5053077 |
224 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA373405255 rs781765144 |
225 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1167255552 CA373405270 |
225 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 226 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373405251 rs755351552 |
226 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5053075 rs755351552 |
226 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747398952 CA5053074 |
226 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1222875435 CA373405232 |
227 | G>D | No |
ClinGen gnomAD |
|
|
rs758588648 CA5053072 |
227 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5053071 rs750511396 |
229 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1462541508 CA373405214 |
229 | Q>P | No |
ClinGen TOPMed |
|
|
rs765173058 CA5053070 |
232 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5053069 rs757334133 |
233 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5053068 rs753737292 |
235 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1183943625 CA373405110 |
236 | W>* | No |
ClinGen TOPMed |
|
|
CA192792643 rs374494156 |
239 | D>N | No |
ClinGen ESP TOPMed |
|
|
rs764042708 CA5053067 |
240 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs760443396 CA5053066 |
241 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1421941428 CA373405033 |
242 | L>R | No |
ClinGen TOPMed |
|
|
rs759172874 CA5053063 |
245 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA192792609 rs916315458 |
246 | Q>* | No |
ClinGen Ensembl |
|
|
CA373404957 rs1432131980 |
247 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA373402984 rs1346432822 |
250 | Y>C | No |
ClinGen gnomAD |
|
|
rs774855989 CA373402940 |
254 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774855989 CA5052997 |
254 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769179921 CA5052996 |
254 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192788300 rs1015035500 |
255 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5052995 rs763334473 |
256 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5052993 rs1554677059 |
257 | H>P | No |
ClinGen Ensembl |
|
|
CA192788276 rs903096494 |
258 | Y>* | No |
ClinGen gnomAD |
|
|
CA192788281 rs1005408695 |
258 | Y>C | No |
ClinGen TOPMed |
|
|
CA192788290 rs999957601 |
258 | Y>H | No |
ClinGen Ensembl |
|
|
rs1160556904 CA373402873 |
260 | W>* | No |
ClinGen TOPMed |
|
|
CA373402853 rs1388492948 |
262 | C>G | No |
ClinGen TOPMed |
|
|
rs773370792 CA5052992 |
263 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5052990 rs200161822 |
264 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5052991 rs375690580 |
264 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776835730 CA5052989 |
265 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1468927515 CA373402821 |
266 | G>R | No |
ClinGen gnomAD |
|
|
rs746906560 CA5052987 |
269 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 270 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183148160 CA373402780 |
270 | R>K | No |
ClinGen gnomAD |
|
|
rs1285249433 CA373402763 |
271 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
CA5052986 rs780144290 |
272 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1436115480 CA373402739 |
273 | C>* | No |
ClinGen TOPMed |
|
|
CA5052985 rs758218399 |
273 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5052984 rs745707433 CA373402735 |
274 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5052983 rs778678766 |
274 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1267760008 CA373402709 |
276 | L>* | No |
ClinGen gnomAD |
|
|
rs1564005532 CA373402707 |
276 | L>F | No |
ClinGen Ensembl |
|
|
rs201127308 CA5052981 |
277 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1228713051 CA373402681 |
279 | E>Q | No |
ClinGen TOPMed |
|
|
rs911727243 CA373402661 |
280 | H>P | No |
ClinGen Ensembl |
|
|
rs911727243 CA192788219 |
280 | H>R | No |
ClinGen Ensembl |
|
|
CA373402665 rs1326931372 |
280 | H>Y | No |
ClinGen TOPMed |
|
|
rs752018152 CA5052977 |
281 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5052978 rs752018152 |
281 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554846152 CA5052979 |
281 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766891221 CA373402650 |
282 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766891221 CA5052976 |
282 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763279505 CA5052975 |
284 | S>P | No |
ClinGen ExAC |
|
|
COSM3716287 CA192787695 rs369448055 |
285 | D>E | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA373402623 rs1196320775 |
285 | D>N | No |
ClinGen TOPMed |
|
|
CA373402567 rs1404448636 |
286 | I>M | No |
ClinGen gnomAD |
|
|
CA373402571 rs1405156444 |
286 | I>T | No |
ClinGen gnomAD |
|
|
CA373402576 rs1160228414 |
286 | I>V | No |
ClinGen gnomAD |
|
|
CA5052952 rs777326138 |
287 | S>L | No |
ClinGen ExAC TOPMed |
|
|
rs777326138 CA192787690 |
287 | S>W | No |
ClinGen ExAC TOPMed |
|
|
rs1166017113 CA373402529 |
290 | C>* | No |
ClinGen gnomAD |
|
|
CA5052951 rs115621078 |
292 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA192787655 rs115621078 |
292 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752249442 CA5052950 |
294 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1184902705 CA373402477 |
295 | C>G | No |
ClinGen gnomAD |
|
|
rs1222352143 CA373402475 |
295 | C>Y | No |
ClinGen TOPMed |
|
|
CA192787650 rs367837774 |
296 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs780505396 CA5052949 |
296 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1489796482 CA373402439 |
298 | F>L | No |
ClinGen gnomAD |
|
|
CA373402424 rs1246591591 |
299 | M>I | No |
ClinGen gnomAD |
|
|
rs1293745674 CA373402432 |
299 | M>T | No |
ClinGen gnomAD |
|
|
rs1207523531 CA373402390 |
302 | F>S | No |
ClinGen TOPMed |
|
|
rs530277196 CA5052947 |
303 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373402378 rs1341416962 |
303 | I>N | No |
ClinGen gnomAD |
|
|
rs376475023 CA5052946 |
306 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373402348 rs1362149222 |
306 | R>H | No |
ClinGen gnomAD |
|
|
CA373402332 rs1292589358 |
308 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 309 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1032361204 CA192787605 |
311 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5052945 rs376556477 |
318 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1462316 rs1390122784 CA373402214 |
318 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1381916707 CA373402191 |
320 | T>N | No |
ClinGen TOPMed |
|
|
rs904447771 CA192787582 |
323 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA373402100 rs1564005211 |
325 | A>D | No |
ClinGen Ensembl |
|
|
CA373402109 rs1479605974 |
325 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA192787567 rs1020160013 |
326 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA373402082 rs1020160013 |
326 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs779265339 CA192787578 |
326 | W>R | No |
ClinGen Ensembl |
|
|
CA373402079 rs1220907055 |
327 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs754051513 CA5052944 |
328 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA192787542 rs895682868 |
330 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1020047743 CA192787539 |
331 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs190893257 CA192787519 |
331 | R>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1588089280 CA373401971 |
334 | H>P | No |
ClinGen Ensembl |
|
|
CA5052941 rs775781623 |
337 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373401887 rs1588089258 |
338 | E>D | No |
ClinGen Ensembl |
|
|
CA373401901 rs1405943718 |
338 | E>Q | No |
ClinGen gnomAD |
|
|
CA192787506 rs1028907603 |
341 | A>S | No |
ClinGen Ensembl |
|
|
rs772124923 CA5052940 |
341 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA192787498 rs1037344929 |
343 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs200364719 CA5052937 |
345 | H>R | No |
ClinGen 1000Genomes TOPMed |
|
|
rs759491313 CA5052939 |
345 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA373401781 rs1355164094 |
346 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 347 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA192787489 rs908138600 |
348 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA373401743 rs1431746705 |
349 | H>Y | No |
ClinGen gnomAD |
|
|
CA373401729 rs1199806118 |
350 | H>Y | No |
ClinGen gnomAD |
|
|
rs983760809 CA192787488 |
351 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1588089022 CA373401652 |
352 | C>F | No |
ClinGen Ensembl |
|
|
rs10972591 CA192787387 |
354 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373401616 rs1281324927 |
354 | C>R | No |
ClinGen TOPMed |
|
|
CA373401597 rs1462263990 |
355 | G>S | No |
ClinGen gnomAD |
|
|
rs769473852 CA5052932 |
356 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA373401568 rs1207684456 |
356 | C>Y | No |
ClinGen gnomAD |
|
|
rs1259289267 CA373401537 |
358 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 358 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368346845 CA5052931 |
360 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1444766989 CA373401490 |
360 | N>K | No |
ClinGen TOPMed |
|
|
CA373401419 rs150126590 |
364 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5052930 rs150126590 |
364 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA192787333 rs967185310 |
366 | C>W | No |
ClinGen Ensembl |
|
|
rs779319795 CA5052927 |
368 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546329189 CA5052928 |
368 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5052926 rs757620245 |
369 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM4152288 CA192787328 rs1010181315 |
369 | R>H | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1401139210 CA373401321 |
370 | W>* | No |
ClinGen Ensembl |
|
|
CA373401310 rs1588088916 |
371 | E>K | No |
ClinGen Ensembl |
|
|
CA192787318 rs765976003 |
373 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373401262 rs1384360116 |
373 | H>Y | No |
ClinGen TOPMed |
|
|
CA192787313 rs954079597 COSM1598321 |
374 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1028833639 CA192787294 |
377 | F>L | No |
ClinGen gnomAD |
|
|
CA5052924 rs529722585 |
377 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 378 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5052923 rs756464900 |
379 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752983651 CA5052922 |
380 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA192787275 rs561556076 |
380 | Q>H | No |
ClinGen 1000Genomes |
|
|
rs767641981 CA5052921 |
381 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1263424664 CA373401100 |
382 | T>P | No |
ClinGen gnomAD |
|
|
rs544498652 CA373401079 |
383 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs544498652 CA5052920 |
383 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA192787234 COSM1598323 rs763737127 |
383 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA373401057 rs1291582942 |
385 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1244397573 CA373401056 |
385 | R>Q | No |
ClinGen gnomAD |
|
|
CA373401039 rs1362273531 |
386 | G>E | No |
ClinGen gnomAD |
|
|
rs186035105 CA5052919 |
388 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1226819352 CA373401001 |
389 | P>S | No |
ClinGen gnomAD |
|
|
CA5052918 rs565450544 COSM1155112 |
390 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1013222665 CA192787225 |
390 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA192786874 rs945502997 |
391 | G>E | No |
ClinGen Ensembl |
|
|
CA5052916 rs772944248 |
391 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199941028 CA373400921 |
393 | D>A | No |
ClinGen TOPMed |
|
|
rs912733032 CA192786870 |
396 | S>N | No |
ClinGen Ensembl |
|
|
rs925469578 CA192786869 |
398 | W>* | No |
ClinGen TOPMed |
|
|
rs531866398 CA5052906 |
398 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192786846 rs1043897543 |
400 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 400 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1168034070 CA373400829 |
401 | P>L | No |
ClinGen gnomAD |
|
|
CA5052905 rs767000046 |
403 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with A6H8Z2
11 regional properties for A6H8Z2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RNA polymerase sigma-70 | 163 - 176 | IPR000943-1 |
| domain | RNA polymerase sigma-70 | 187 - 195 | IPR000943-2 |
| domain | RNA polymerase sigma-70 | 311 - 323 | IPR000943-3 |
| domain | RNA polymerase sigma-70 | 332 - 358 | IPR000943-4 |
| domain | RNA polymerase sigma factor 70, region 1.1 | 16 - 85 | IPR007127 |
| domain | RNA polymerase sigma-70 region 3 | 218 - 294 | IPR007624 |
| domain | RNA polymerase sigma-70 region 2 | 139 - 208 | IPR007627 |
| domain | RNA polymerase sigma-70 region 4 | 307 - 360 | IPR007630 |
| domain | RNA polymerase sigma-70 region 1.2 | 101 - 134 | IPR009042 |
| domain | RNA polymerase sigma factor RpoD, C-terminal | 135 - 371 | IPR012760 |
| domain | RNA polymerase sigma-70 like domain | 135 - 360 | IPR014284 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEAHEIIEEP | HITMDAEKHP | PSKDPSAEDL | QENHISESFL | KPSTSETPLE | PHTSESPLVP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SPSQIPLEAH | SPETHQEPSI | SETPSETPTY | EASLDSPISV | VPEKHLTLPP | QSRDYVCLSS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SDTLKEDLSS | ESSSNEVPWT | RRSTHLSESE | SLPEHCLSGP | SSQVQVDTTE | KQEEEAGEVE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KGVDASDSTA | HTAQPGHQLG | NTARPVFPAR | QTELVEVAKA | MHREEFGAQV | NNLFQWEKDA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ALNAIQTGLY | IGWRCPHYLW | DCFRIGDESR | CFCGHLLREH | RIISDISVPC | KVSQCRCFMF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CFIPSRPEEV | GEFWLKRRAT | FDPKAWRAQC | RCKHSHEEHA | ATGPHPCRHH | GCCCGCFESN |
| 370 | 380 | 390 | 400 | ||
| FLCAACDRRW | EEHETFFDTQ | KTRQRGGRPR | GTDTVSNWHR | PL |