Q9BTX1
Gene name |
NDC1 (TMEM48) |
Protein name |
Nucleoporin NDC1 |
Names |
hNDC1, Transmembrane protein 48 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55706 |
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 Q9BTX1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7R5J | EM | 5000 A | E0/E1 | 1-674 | PDB |
| 7R5K | EM | 1200 A | E0/E1 | 1-674 | PDB |
| AF-Q9BTX1-F1 | Predicted | AlphaFoldDB |
476 variants for Q9BTX1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000844758 CA340411403 rs1570193658 |
369 | C>Y | Global developmental delay [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1166019480 CA340416186 |
2 | A>T | No |
ClinGen gnomAD |
|
|
CA862109 rs563958473 |
4 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA22663668 rs897196827 |
5 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1263441723 CA340416169 |
5 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA340416170 rs1263441723 |
5 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA340416149 rs1323318209 |
8 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1323318209 CA340416147 |
8 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1222154233 CA340416150 |
8 | P>S | No |
ClinGen gnomAD |
|
|
CA22663662 rs572040816 |
10 | A>P | No |
ClinGen 1000Genomes |
|
|
CA340416134 rs1341424656 |
10 | A>V | No |
ClinGen gnomAD |
|
|
CA340416131 rs1403180918 |
11 | G>C | No |
ClinGen gnomAD |
|
|
CA340416125 rs1390027820 |
12 | R>K | No |
ClinGen gnomAD |
|
|
rs1266882267 CA340416115 |
13 | S>L | No |
ClinGen TOPMed |
|
|
CA340416119 rs1294650296 |
13 | S>P | No |
ClinGen gnomAD |
|
|
CA22663658 rs1039544081 |
14 | R>Q | No |
ClinGen TOPMed |
|
|
rs1459859746 CA340416113 |
14 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA862105 rs767468558 |
15 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs7512625 CA862106 |
15 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1167778888 CA340416098 |
16 | I>M | No |
ClinGen TOPMed |
|
|
rs1430311505 CA340416103 |
16 | I>V | No |
ClinGen TOPMed |
|
|
rs1478352937 CA340416097 |
17 | L>M | No |
ClinGen gnomAD |
|
|
rs1423908413 CA340416095 |
17 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1423908413 CA340416094 |
17 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs749799534 CA862090 |
20 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA862089 rs780038604 |
21 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs202217135 CA862087 CA862086 |
23 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340415960 rs1570245187 |
24 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 24 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA22662257 rs993879153 |
25 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA340415948 rs1344291075 |
26 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 26 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA22662253 rs199526095 |
26 | V>I | No |
ClinGen ESP |
|
|
CA340415926 rs1397776009 |
29 | I>M | No |
ClinGen TOPMed |
|
|
CA862083 rs576421559 |
36 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA862082 rs147722125 |
38 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA862080 rs765031899 |
40 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA340415852 rs1283001749 |
41 | T>R | No |
ClinGen TOPMed |
|
|
rs759121257 RCV000970695 CA862079 |
43 | F>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA340415837 rs776056249 |
44 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766036185 CA862077 |
44 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA862078 rs776056249 |
44 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760310220 CA862076 |
47 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA862075 rs774766049 |
49 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA340415799 rs1158004039 |
49 | I>T | No |
ClinGen gnomAD |
|
|
CA22662219 rs1050289145 |
51 | L>F | No |
ClinGen TOPMed |
|
|
CA22662215 rs768979369 |
53 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185232454 CA340415771 |
53 | H>Q | No |
ClinGen gnomAD |
|
|
CA862074 rs768979369 |
53 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA862073 rs749809313 |
54 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340415767 rs1441567574 |
54 | P>S | No |
ClinGen gnomAD |
|
|
CA862071 rs41313377 |
55 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA862072 rs776087410 |
55 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA862070 rs745972331 |
56 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA340415752 rs1557593323 |
57 | W>R | No |
ClinGen Ensembl |
|
|
rs554272928 CA862069 |
59 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1242220501 CA340415693 |
60 | D>V | No |
ClinGen gnomAD |
|
|
CA862054 rs548894964 |
62 | F>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA862055 rs763380008 |
62 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA862052 rs746354094 |
66 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA340415634 rs1557592091 |
66 | Y>D | No |
ClinGen Ensembl |
|
|
CA340415623 rs1198766677 |
67 | S>G | No |
ClinGen TOPMed |
|
|
rs767668725 CA22660708 |
69 | Y>C | No |
ClinGen TOPMed |
|
|
CA340415539 rs1479435707 |
71 | I>M | No |
ClinGen TOPMed |
|
|
rs771109347 CA862050 |
72 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA862051 rs776889041 |
72 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA862048 rs778167892 |
75 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA862046 rs747992238 |
80 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1164844207 CA340415330 |
84 | I>R | No |
ClinGen gnomAD |
|
|
rs778562994 CA862044 |
88 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1004112842 CA22660678 |
90 | E>G | No |
ClinGen TOPMed |
|
|
CA862043 rs755012639 |
91 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs199637950 CA862042 |
92 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA862041 rs116279146 |
93 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749035140 CA862023 |
94 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779998354 CA862022 |
96 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA340413905 rs1248979652 |
99 | P>R | No |
ClinGen gnomAD |
|
|
rs780561702 CA862019 |
102 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA340413883 rs1200890540 |
103 | L>I | No |
ClinGen gnomAD |
|
|
rs1414676750 CA340413881 |
103 | L>Q | No |
ClinGen gnomAD |
|
|
CA862017 rs61751026 |
106 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA862015 rs760006725 |
106 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA862016 rs61751026 |
106 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 108 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340413847 rs1345032456 |
109 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1345032456 CA340413846 |
109 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs754183651 CA862014 |
109 | I>V | No |
ClinGen ExAC |
|
|
CA22658418 rs369521412 |
110 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA862013 rs767010598 |
116 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA340413798 rs1416002368 |
116 | M>T | No |
ClinGen TOPMed |
|
|
CA862012 rs375742323 |
117 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368557375 CA862010 |
117 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375742323 CA862011 |
117 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762145922 CA862009 |
118 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 121 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA22658413 rs868505816 |
121 | H>Q | No |
ClinGen Ensembl |
|
|
rs779810302 CA862005 |
124 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs757239698 CA862006 |
124 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1381462827 CA340413735 |
126 | M>V | No |
ClinGen gnomAD |
|
|
CA862004 rs769789336 |
127 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780801495 CA862002 |
128 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA862003 rs745759834 |
128 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA862001 rs756737481 |
131 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340413693 rs1442523214 |
132 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs751036886 CA340413686 |
133 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751036886 CA862000 |
133 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751036886 CA340413687 |
133 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340413673 rs1237296234 |
135 | I>T | No |
ClinGen gnomAD |
|
|
rs1013025245 CA22658395 |
135 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA340413664 rs1352972249 |
137 | Q>K | No |
ClinGen gnomAD |
|
|
CA340413659 rs1235544858 |
137 | Q>L | No |
ClinGen gnomAD |
|
|
rs1054687190 CA22658391 |
138 | G>D | No |
ClinGen Ensembl |
|
|
CA861999 rs777291505 |
140 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA861998 rs141204999 |
141 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200547658 CA861997 |
144 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1040275375 CA22658377 |
146 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 147 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449082990 CA340413582 |
149 | G>D | No |
ClinGen gnomAD |
|
|
CA861995 rs375468870 |
150 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA861975 VAR_026388 rs17849721 |
154 | G>D | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA861974 rs767915338 |
155 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA340413524 rs1187741257 |
156 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1221579877 CA340413518 |
157 | A>S | No |
ClinGen TOPMed |
|
|
rs757726463 CA861973 |
158 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144318786 CA861972 |
158 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA861970 rs763209170 |
161 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1297874207 CA340413454 |
166 | H>L | No |
ClinGen gnomAD |
|
|
CA861967 rs759251141 |
166 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340413443 rs1385138531 |
168 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776425575 CA861966 |
170 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA861965 rs770828109 |
172 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 173 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340413406 rs1398508311 |
174 | A>G | No |
ClinGen gnomAD |
|
|
CA861964 rs151303092 |
174 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1170374017 CA340413389 |
176 | M>I | No |
ClinGen gnomAD |
|
|
CA861963 rs772892329 |
180 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA861962 rs771689510 |
181 | S>N | No |
ClinGen ExAC |
|
|
rs1430888690 CA340413347 |
182 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1430888690 CA340413345 |
182 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA340413326 rs1469673213 |
183 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA340413313 rs1456306650 |
184 | Y>C | No |
ClinGen TOPMed |
|
|
rs148809606 CA861957 |
187 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757744383 CA861956 |
188 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1041306386 CA22657535 |
190 | N>D | No |
ClinGen gnomAD |
|
|
rs943647334 CA22657523 |
190 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA861955 rs374201897 |
191 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1331167903 CA340413134 |
195 | P>R | No |
ClinGen gnomAD |
|
|
rs778202878 CA861953 |
196 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs944011011 CA22657515 |
196 | I>V | No |
ClinGen Ensembl |
|
|
rs780758332 CA22657510 |
197 | I>V | No |
ClinGen Ensembl |
|
|
rs1275923184 CA340413089 |
198 | Q>H | No |
ClinGen TOPMed |
|
|
CA861933 rs778254143 |
199 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA340411940 rs1190160741 |
200 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA340411925 rs1170529483 |
201 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 202 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA22655236 rs1009687150 |
202 | F>L | No |
ClinGen TOPMed |
|
|
rs758842714 CA861932 |
204 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA861931 rs202236360 |
204 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA340411825 rs1390272312 |
208 | S>T | No |
ClinGen TOPMed |
|
|
rs1244494651 CA340411737 |
213 | V>G | No |
ClinGen gnomAD |
|
|
rs754073884 CA861928 |
215 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA340411699 rs1293453273 |
216 | S>N | No |
ClinGen gnomAD |
|
|
CA22655211 rs769467721 |
217 | C>F | No |
ClinGen Ensembl |
|
|
rs936700121 CA22655196 |
217 | C>W | No |
ClinGen TOPMed |
|
|
rs769467721 CA22655214 |
217 | C>Y | No |
ClinGen Ensembl |
|
|
CA861927 rs766466188 |
224 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265727798 CA340411591 |
225 | R>G | No |
ClinGen TOPMed |
|
|
CA340411562 rs1469953989 |
227 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1207653786 CA340411543 |
229 | I>T | No |
ClinGen TOPMed |
|
|
CA22655172 rs986786255 |
230 | L>S | No |
ClinGen Ensembl |
|
|
CA22655163 rs905097399 |
232 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1423163444 CA340410099 |
235 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1423163444 CA340410103 |
235 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA340410078 rs1168630407 |
236 | Y>C | No |
ClinGen gnomAD |
|
|
CA340410061 rs1255612978 |
237 | I>S | No |
ClinGen TOPMed |
|
|
CA340410067 rs1476393537 |
237 | I>V | No |
ClinGen gnomAD |
|
|
CA861903 rs751537502 |
240 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767576699 CA861902 |
241 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762527996 CA861901 |
244 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs773603921 CA861897 |
246 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA340409910 rs759180095 |
246 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs759180095 CA861898 |
246 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA861899 rs140272518 |
246 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
| TCGA novel | 248 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340409819 rs1570208830 |
250 | I>T | No |
ClinGen Ensembl |
|
|
CA340409801 rs1557581652 |
251 | D>A | No |
ClinGen Ensembl |
|
|
CA340409582 rs1305444328 |
252 | E>D | No |
ClinGen gnomAD |
|
|
rs765980814 CA22650350 |
254 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765980814 CA340409559 |
254 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs565513140 CA861879 |
254 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765980814 CA861878 |
254 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280389837 CA340409548 |
255 | H>R | No |
ClinGen gnomAD |
|
|
CA861877 rs762246216 |
257 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA861875 rs769264092 |
258 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435347733 CA340409473 |
261 | V>A | No |
ClinGen gnomAD |
|
|
CA861874 rs201129316 |
262 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340409462 rs1361343346 |
262 | S>N | No |
ClinGen TOPMed |
|
|
CA861873 rs139068522 |
263 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139068522 CA340409444 |
263 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781569025 COSM233605 CA861870 |
268 | S>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs781569025 CA340409382 |
268 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA861868 rs372200205 |
270 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA861865 rs745847402 |
272 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA861866 rs144862626 |
272 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs897947981 CA22650331 |
276 | C>W | No |
ClinGen Ensembl |
|
|
CA861864 rs778777100 |
277 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA861862 rs766036287 |
281 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA861861 rs766036287 |
281 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs138233326 CA861860 COSM910802 |
282 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA861858 rs764336913 |
285 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 285 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340409159 rs1357405170 |
286 | V>A | No |
ClinGen gnomAD |
|
|
CA861857 rs763565846 |
288 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776170347 CA861856 |
289 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs759701745 CA861854 |
291 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148955439 CA861852 |
294 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA340409095 rs1475265517 |
296 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340407889 rs1256328275 |
298 | A>V | No |
ClinGen gnomAD |
|
|
CA861831 rs773341233 |
299 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747955631 CA861829 |
303 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA861828 rs774122813 |
305 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA340407724 rs1431616960 |
306 | P>S | No |
ClinGen gnomAD |
|
|
CA22649685 rs1014355811 |
308 | A>V | No |
ClinGen TOPMed |
|
|
CA861826 rs376309632 |
309 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA22649684 rs201022129 |
310 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1302091161 CA340407600 |
312 | D>A | No |
ClinGen TOPMed |
|
|
CA861824 rs145758782 |
314 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340407380 rs1393095342 |
321 | S>G | No |
ClinGen TOPMed |
|
|
rs756920484 CA861821 |
321 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs931087415 CA22649651 |
322 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753179579 CA861820 |
323 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs562850670 CA861819 |
324 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1248707258 CA340407284 |
325 | P>A | No |
ClinGen gnomAD |
|
|
rs151124002 CA861817 |
325 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151124002 CA340407268 |
325 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151124002 CA861818 |
325 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 326 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1208802673 CA340407248 |
326 | I>T | No |
ClinGen gnomAD |
|
|
rs1347878042 CA340407202 |
328 | K>E | No |
ClinGen gnomAD |
|
|
CA22670332 rs376969911 |
329 | Y>H | No |
ClinGen ESP |
|
| TCGA novel | 332 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 333 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340411843 rs1312926886 |
334 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA340411824 rs764262039 |
336 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA861786 rs751803285 |
336 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs764262039 CA861785 |
336 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA340411794 rs1365775210 |
339 | S>A | No |
ClinGen gnomAD |
|
|
CA340411796 rs1365775210 |
339 | S>P | No |
ClinGen gnomAD |
|
|
CA861783 rs775341175 |
344 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1474985084 CA340411724 |
345 | R>G | No |
ClinGen gnomAD |
|
|
rs373565166 CA861782 |
345 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1190136021 CA340411696 |
347 | Q>R | No |
ClinGen gnomAD |
|
|
rs759485673 CA861781 |
348 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232669879 CA340411675 |
348 | E>D | No |
ClinGen TOPMed |
|
|
rs1206100831 CA340411669 |
349 | V>F | No |
ClinGen gnomAD |
|
|
rs1353221909 CA340411653 |
350 | F>L | No |
ClinGen gnomAD |
|
|
rs776049255 CA861780 |
352 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340411639 rs1269667600 |
352 | L>I | No |
ClinGen gnomAD |
|
|
rs770583868 CA861779 |
353 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA340411613 rs770583868 |
353 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs746474863 CA861778 |
354 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536854518 CA861771 |
357 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22668496 rs576246254 |
358 | H>Y | No |
ClinGen Ensembl |
|
|
rs140153118 CA861769 |
361 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1194472334 CA340411444 |
363 | T>A | No |
ClinGen gnomAD |
|
|
CA340411445 rs1194472334 |
363 | T>P | No |
ClinGen gnomAD |
|
|
rs751580134 CA861768 |
364 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs751580134 CA340411436 |
364 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA340411421 rs1251578772 |
367 | R>G | No |
ClinGen gnomAD |
|
|
rs1014798553 CA340411414 |
368 | E>K | No |
ClinGen Ensembl |
|
|
rs1014798553 CA22668449 |
368 | E>Q | No |
ClinGen Ensembl |
|
|
CA22668429 rs200098090 |
370 | L>F | No |
ClinGen Ensembl |
|
|
rs752475168 CA861765 |
371 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340411360 rs1211125967 |
373 | L>S | No |
ClinGen gnomAD |
|
|
CA340411345 rs1261080350 |
374 | N>S | No |
ClinGen gnomAD |
|
|
rs765055001 CA861764 |
375 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340411318 rs1570193584 |
376 | M>V | No |
ClinGen Ensembl |
|
|
CA22668407 rs1014146065 |
377 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 378 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1177983836 CA340411288 |
378 | Q>R | No |
ClinGen TOPMed |
|
|
rs1367250174 CA340411268 |
381 | I>V | No |
ClinGen gnomAD |
|
|
CA340411261 rs1301061379 |
382 | L>V | No |
ClinGen gnomAD |
|
|
CA340411252 rs771920754 |
383 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs771920754 CA861758 |
383 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1395506197 CA340411255 |
383 | Y>H | No |
ClinGen gnomAD |
|
|
CA340411228 rs1408304848 |
386 | A>V | No |
ClinGen gnomAD |
|
|
CA861756 rs780332596 |
389 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA861755 rs770217612 |
389 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs905804282 CA22668382 |
391 | G>R | No |
ClinGen TOPMed |
|
|
rs757745763 CA861752 |
393 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA340411144 rs1280314379 |
396 | S>F | No |
ClinGen TOPMed |
|
|
rs372774650 CA861747 |
399 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752982451 CA861748 |
399 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1227494012 CA340411106 |
400 | E>K | No |
ClinGen Ensembl |
|
|
rs144487640 CA861746 |
400 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340411081 rs1281168485 |
402 | K>E | No |
ClinGen TOPMed |
|
|
CA861745 rs753517346 |
406 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA340411015 rs1344230523 |
407 | P>L | No |
ClinGen gnomAD |
|
|
rs1338621325 CA340410229 |
408 | E>V | No |
ClinGen Ensembl |
|
|
rs755144525 CA861727 |
410 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs753756619 CA861726 |
411 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs766250009 CA861725 |
412 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA22665962 rs372529905 |
413 | Q>H | No |
ClinGen ESP TOPMed |
|
|
CA340410036 rs1557575126 |
418 | S>I | No |
ClinGen Ensembl |
|
|
CA340410021 rs1406817899 |
419 | Q>R | No |
ClinGen gnomAD |
|
|
TCGA novel rs1343346851 CA340409995 |
420 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs767523513 CA861721 |
420 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340409985 rs1473348388 |
421 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 421 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773678647 CA861719 |
422 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761392187 CA861720 |
422 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22665917 rs990904873 |
423 | P>L | No |
ClinGen Ensembl |
|
|
CA340409943 rs1359144172 |
425 | V>L | No |
ClinGen TOPMed |
|
|
rs1239065935 CA340409921 |
426 | P>S | No |
ClinGen gnomAD |
|
|
CA340409892 rs1213402668 |
427 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1285257877 CA340409856 |
430 | K>E | No |
ClinGen gnomAD |
|
|
CA861716 rs139582452 |
430 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA861715 rs771307875 |
433 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1248364434 CA340409742 |
437 | K>E | No |
ClinGen TOPMed |
|
|
rs1557575048 CA340409714 |
439 | S>F | No |
ClinGen Ensembl |
|
|
rs772418834 CA861714 |
439 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA861712 rs772397728 |
440 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1421297602 CA340409705 |
441 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs748315192 CA861711 |
442 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA340409685 rs1346197592 |
444 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA22665863 rs112803162 |
456 | M>V | No |
ClinGen Ensembl |
|
|
CA340409581 COSM910798 rs1423835292 |
458 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs750176888 CA861704 |
459 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs781204599 CA861703 |
461 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs757135853 CA861702 |
462 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751118664 CA861701 |
462 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763488794 CA861700 |
464 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA861699 rs531070097 |
465 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA861695 rs773550804 |
469 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA861694 CA861693 rs547377162 |
470 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs180774404 CA861692 |
471 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA861691 rs145662692 |
472 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145662692 CA340409406 |
472 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340409408 rs1242479138 |
472 | P>S | No |
ClinGen gnomAD |
|
|
rs780432280 CA861688 |
477 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1351156920 CA340409338 |
478 | I>V | No |
ClinGen gnomAD |
|
|
CA340409322 rs1167677221 |
479 | R>K | No |
ClinGen gnomAD |
|
|
rs770087117 CA861687 |
480 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA340409294 rs780817009 |
481 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780817009 CA861685 |
481 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA861682 rs777722453 |
487 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22665682 rs762296132 |
489 | S>A | No |
ClinGen Ensembl |
|
|
rs781422428 CA861668 |
490 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770658717 CA861667 |
491 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs961205885 CA22665554 |
493 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1209407324 CA340408822 |
494 | T>I | No |
ClinGen gnomAD |
|
|
rs746751505 CA861666 |
495 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 495 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340408782 rs1229687045 |
498 | N>D | No |
ClinGen TOPMed |
|
|
CA340408751 rs1235796882 |
500 | S>P | No |
ClinGen gnomAD |
|
|
rs1390346580 CA340408723 |
502 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs747722166 CA861663 |
503 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA861662 rs148333247 |
505 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA861661 rs148333247 |
505 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA861660 rs753456285 |
507 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA861658 rs757570881 |
509 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA861659 rs766015082 |
509 | G>R | No |
ClinGen ExAC TOPMed |
|
|
CA340408649 rs766015082 |
509 | G>S | No |
ClinGen ExAC TOPMed |
|
|
rs1007180217 CA22665512 |
510 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1158610970 CA340408615 |
511 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1158610970 CA340408619 |
511 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA340408605 rs1414345990 |
512 | M>K | No |
ClinGen gnomAD |
|
|
CA861657 rs371740668 |
512 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1185885389 CA340408569 |
514 | Q>K | No |
ClinGen gnomAD |
|
|
CA22665494 rs865777947 |
516 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 521 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340408353 rs1485074488 |
523 | Q>R | No |
ClinGen gnomAD |
|
|
CA861654 rs775759231 |
524 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA861653 rs765426871 |
526 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759616562 CA861652 |
526 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340408241 rs1451726391 |
527 | E>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 528 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 530 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA861633 rs766575190 |
531 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs773041461 CA861631 |
536 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22663286 rs868754994 |
536 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1402969606 CA340407002 |
537 | V>M | No |
ClinGen gnomAD |
|
|
rs1052798711 CA22663273 |
538 | L>P | No |
ClinGen Ensembl |
|
|
CA22663268 CA861629 rs747898308 |
540 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA861628 rs376027518 |
541 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA861627 rs149157348 |
542 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748810834 CA861626 |
542 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779614470 CA861625 |
543 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 547 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 549 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215774042 CA340405595 |
551 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA861608 rs754591838 |
552 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22660601 rs754591838 |
552 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775239207 CA861607 |
553 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1417019857 CA340405553 |
553 | A>T | No |
ClinGen TOPMed |
|
|
rs775239207 CA22660590 |
553 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA22660586 rs982897957 |
554 | V>F | No |
ClinGen Ensembl |
|
| TCGA novel | 556 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282151676 CA340405397 |
558 | A>T | No |
ClinGen gnomAD |
|
|
CA861606 rs769374376 |
565 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1235332947 CA340405217 |
566 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1442750989 CA340404741 |
570 | H>R | No |
ClinGen gnomAD |
|
|
rs762612478 CA861584 |
576 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA340404647 rs1289140721 |
577 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA861583 rs775500548 |
579 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA340404598 rs1354131056 |
581 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA340404601 rs1354131056 |
581 | F>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 583 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140071660 CA861582 |
586 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1487242245 CA340404533 |
587 | T>S | No |
ClinGen gnomAD |
|
|
CA861580 rs187459137 |
589 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340404519 rs187459137 |
589 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340404501 rs985735319 |
591 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA22659084 rs985735319 |
591 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs142123604 CA861579 |
595 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 596 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340404421 rs1473257110 |
597 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA340404420 rs1473257110 |
597 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340404406 rs1181251964 |
599 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1413313440 CA340404392 |
600 | E>K | No |
ClinGen TOPMed |
|
|
CA861556 rs770330848 |
602 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs971271043 CA22652549 |
603 | D>A | No |
ClinGen Ensembl |
|
|
CA340402853 COSM191630 rs1207224755 |
603 | D>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs370908994 CA861554 |
606 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866357765 CA22652545 |
609 | P>S | No |
ClinGen Ensembl |
|
|
CA22652530 rs959770902 |
610 | H>R | No |
ClinGen TOPMed |
|
|
rs752886954 CA22652535 |
610 | H>Y | No |
ClinGen Ensembl |
|
|
CA340402750 rs1191672421 |
611 | A>D | No |
ClinGen TOPMed |
|
|
CA340402727 rs1436908688 |
613 | S>I | No |
ClinGen gnomAD |
|
|
CA340402719 rs1419385982 |
614 | K>E | No |
ClinGen TOPMed |
|
|
CA861551 rs778111779 |
616 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA340402684 rs1351569869 |
617 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs991404778 CA22652510 |
617 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs752576015 CA861549 |
620 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA861548 rs537860765 |
623 | V>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340402621 rs1429000953 |
623 | V>L | No |
ClinGen gnomAD |
|
|
rs754769846 CA861547 |
624 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200700767 CA22652503 |
624 | D>N | No |
ClinGen TOPMed |
|
|
rs1380450785 CA340402600 |
625 | T>N | No |
ClinGen TOPMed |
|
|
CA340402605 rs1331832371 |
625 | T>P | No |
ClinGen gnomAD |
|
|
rs753857188 CA861546 |
627 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs116087466 CA861545 |
629 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760276805 CA861544 |
632 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA861543 rs772584790 |
633 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA22652484 rs1037137633 |
635 | R>G | No |
ClinGen TOPMed |
|
|
rs552272020 CA861542 |
635 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340402529 rs1483662058 |
636 | A>V | No |
ClinGen gnomAD |
|
|
CA340402518 rs1320094986 |
638 | L>R | No |
ClinGen TOPMed |
|
|
CA340402499 rs1310088289 |
640 | T>A | No |
ClinGen gnomAD |
|
|
CA22652475 rs577396104 |
641 | A>S | No |
ClinGen Ensembl |
|
|
CA340402485 rs1219339303 |
641 | A>V | No |
ClinGen gnomAD |
|
|
CA340402464 rs1305624782 |
643 | Y>C | No |
ClinGen gnomAD |
|
|
CA861538 rs759826117 |
644 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777133467 CA861537 |
644 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771410262 CA861536 |
647 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA340402408 rs1485785099 |
648 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 650 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779858388 CA22652453 |
650 | G>D | No |
ClinGen Ensembl |
|
|
CA340402369 rs1215071422 |
652 | H>R | No |
ClinGen TOPMed |
|
|
rs759948741 CA861520 |
657 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340401396 rs1183892520 |
659 | S>F | No |
ClinGen gnomAD |
|
|
rs1462384353 COSM1320988 CA340401393 |
660 | A>T | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs771465194 CA861518 |
660 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA22650132 rs868742838 |
662 | H>Q | No |
ClinGen Ensembl |
|
|
CA22650133 rs1029795542 |
662 | H>Y | No |
ClinGen gnomAD |
|
|
rs1261947294 CA340401356 |
663 | Q>K | No |
ClinGen gnomAD |
|
|
CA861516 rs374774558 |
664 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371861925 CA861515 |
665 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA340401314 rs1458339351 |
666 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 667 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs534511439 CA861514 |
668 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs534511439 CA340401287 |
668 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA861512 rs756360674 |
672 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340401236 rs1230730504 |
672 | F>V | No |
ClinGen TOPMed |
|
| TCGA novel | 674 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q9BTX1
No regional properties for Q9BTX1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9BTX1 | |||
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
| nuclear pore | A protein complex providing a discrete opening in the nuclear envelope of a eukaryotic cell, where the inner and outer nuclear membranes are joined. |
| nuclear pore transmembrane ring | A subcomplex of the nuclear pore complex (NPC) that spans the nuclear membrane and anchors the NPC to the nuclear envelope. In S. cerevisiae, the transmembrane ring is composed of Pom152p, Pom34p, and Ndc1p. In vertebrates, it is composed of Gp210, Ndc1, and Pom121. Components are arranged in 8-fold symmetrical 'spokes' around the central transport channel. A single 'spoke', can be isolated and is sometime referred to as the Ndc1 complex. |
| 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 |
|---|---|
| protein-macromolecule adaptor activity | The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid. |
| structural constituent of nuclear pore | The action of a molecule that contributes to the structural integrity of the nuclear pore complex, a protein-lined channel in the nuclear envelope that allows the transfer of macromolecules. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| homologous chromosome pairing at meiosis | The meiotic cell cycle process where side by side pairing and physical juxtaposition of homologous chromosomes is created during meiotic prophase. Homologous chromosome pairing begins when the chromosome arms begin to pair from the clustered telomeres and ends when synaptonemal complex or linear element assembly is complete. |
| mRNA transport | The directed movement of mRNA, messenger ribonucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| nuclear pore complex assembly | The aggregation, arrangement and bonding together of a set of components to form a nuclear pore complex. |
| nuclear pore localization | Any process in which nuclear pores are transported to, or maintained in, a specific location. |
| nuclear pore organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nuclear pore. |
| nucleocytoplasmic transport | The directed movement of molecules between the nucleus and the cytoplasm. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8VCB1 | Ndc1 | Nucleoporin NDC1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATAVSRPCA | GRSRDILWRV | LGWRIVASIV | WSVLFLPICT | TVFIIFSRID | LFHPIQWLSD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SFSDLYSSYV | IFYFLLLSVV | IIIISIFNVE | FYAVVPSIPC | SRLALIGKII | HPQQLMHSFI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HAAMGMVMAW | CAAVITQGQY | SFLVVPCTGT | NSFGSPAAQT | CLNEYHLFFL | LTGAFMGYSY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SLLYFVNNMN | YLPFPIIQQY | KFLRFRRSLL | LLVKHSCVES | LFLVRNFCIL | YYFLGYIPKA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WISTAMNLHI | DEQVHRPLDT | VSGLLNLSLL | YHVWLCGVFL | LTTWYVSWIL | FKIYATEAHV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FPVQPPFAEG | SDECLPKVLN | SNPPPIIKYL | ALQDLMLLSQ | YSPSRRQEVF | SLSQPGGHPH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NWTAISRECL | NLLNGMTQKL | ILYQEAAATN | GRVSSSYPVE | PKKLNSPEET | AFQTPKSSQM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PRPSVPPLVK | TSLFSSKLST | PDVVSPFGTP | FGSSVMNRMA | GIFDVNTCYG | SPQSPQLIRR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GPRLWTSASD | QQMTEFSNPS | PSTSISAEGK | TMRQPSVIYS | WIQNKREQIK | NFLSKRVLIM |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YFFSKHPEAS | IQAVFSDAQM | HIWALEGLSH | LVAASFTEDR | FGVVQTTLPA | ILNTLLTLQE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AVDKYFKLPH | ASSKPPRISG | SLVDTSYKTL | RFAFRASLKT | AIYRITTTFG | EHLNAVQASA |
| 670 | |||||
| EHQKRLQQFL | EFKE |