Q96NZ1
PR
Gene name |
FOXN4 |
Protein name |
Forkhead box protein N4 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:121643 |
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 Q96NZ1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96NZ1-F1 | Predicted | AlphaFoldDB |
404 variants for Q96NZ1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6775885 rs768756593 |
4 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1334398640 CA386625612 |
5 | D>A | No |
ClinGen TOPMed |
|
|
rs1469307781 CA386625510 |
13 | I>V | No |
ClinGen gnomAD |
|
|
CA386625498 rs1360598819 |
14 | I>V | No |
ClinGen TOPMed |
|
|
CA386625442 rs1270091958 |
18 | G>R | No |
ClinGen gnomAD |
|
|
rs367951583 CA386625406 |
21 | H>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs367951583 CA243419282 |
21 | H>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA386625318 rs1219103189 |
28 | Y>H | No |
ClinGen gnomAD |
|
|
CA243405182 rs893461170 |
30 | L>F | No |
ClinGen TOPMed |
|
|
rs200934601 CA6775879 |
34 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386625044 rs1200048728 |
36 | D>N | No |
ClinGen TOPMed |
|
|
CA386625024 rs1593776103 |
38 | D>A | No |
ClinGen Ensembl |
|
|
CA386625012 rs1401302883 |
40 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386625008 rs1297168227 |
41 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA243405164 rs925315187 |
44 | Q>R | No |
ClinGen Ensembl |
|
|
CA386624978 rs1171128217 |
45 | S>L | No |
ClinGen gnomAD |
|
|
CA386624973 rs1424967920 |
46 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 47 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376144049 CA6775876 |
47 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376144049 CA386624967 |
47 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243405129 rs979439530 |
48 | W>* | No |
ClinGen Ensembl |
|
|
rs967226089 CA243405118 |
50 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA386624944 rs765806216 |
51 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765806216 CA386624943 |
51 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM320487 CA6775874 rs765806216 |
51 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1593776001 CA386624937 |
52 | V>G | No |
ClinGen Ensembl |
|
|
CA6775872 rs750024822 |
54 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386624923 rs1258617511 |
55 | P>S | No |
ClinGen gnomAD |
|
|
rs1315563827 CA386624916 |
56 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs762127689 CA6775870 |
56 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448322036 CA386624905 |
58 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1304469787 CA386624895 |
59 | Q>L | No |
ClinGen gnomAD |
|
|
rs1293353709 CA386624887 |
60 | M>I | No |
ClinGen TOPMed |
|
|
rs539013193 CA243405050 |
60 | M>K | No |
ClinGen 1000Genomes |
|
|
CA386624868 rs1332686599 |
63 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 63 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1016370033 CA243405041 |
64 | R>C | No |
ClinGen TOPMed |
|
|
CA243405039 rs1037108889 |
64 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs777147614 CA6775869 |
65 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 66 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1005854954 CA243405020 |
66 | D>Y | No |
ClinGen Ensembl |
|
|
CA243405019 rs774452461 |
67 | L>V | No |
ClinGen Ensembl |
|
|
rs1389711709 CA386624837 |
69 | G>S | No |
ClinGen TOPMed |
|
|
rs1423032331 CA386624833 |
69 | G>V | No |
ClinGen gnomAD |
|
|
CA386624831 rs1163850796 |
70 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs578261991 CA243405008 |
70 | P>L | No |
ClinGen 1000Genomes |
|
|
CA243404998 rs764230793 |
72 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA243405003 rs764230793 |
72 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA386624811 rs937942321 |
73 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs937942321 CA243404995 |
73 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs556569972 CA6775866 |
75 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6775865 rs772022139 |
76 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1200479354 CA386624795 |
76 | H>Y | No |
ClinGen gnomAD |
|
|
rs1256876562 CA386624790 |
77 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1311927920 CA386624744 |
82 | G>E | No |
ClinGen gnomAD |
|
|
rs1593774114 CA386624736 |
83 | V>G | No |
ClinGen Ensembl |
|
|
CA386624724 rs1593774092 |
85 | D>A | No |
ClinGen Ensembl |
|
|
rs1238427501 CA386624729 |
85 | D>N | No |
ClinGen gnomAD |
|
|
rs1376888527 CA386624711 |
87 | H>L | No |
ClinGen gnomAD |
|
|
rs1275940417 CA386624709 |
87 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1593774079 CA386624703 |
88 | V>G | No |
ClinGen Ensembl |
|
|
CA386624702 CA243403620 rs948244639 |
89 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1381517137 CA386624672 |
93 | S>R | No |
ClinGen TOPMed |
|
|
CA386624675 rs1322906032 |
93 | S>T | No |
ClinGen gnomAD |
|
|
rs1450660927 CA386624670 |
94 | P>A | No |
ClinGen gnomAD |
|
|
rs1450660927 CA386624671 |
94 | P>S | No |
ClinGen gnomAD |
|
|
rs918095858 CA243403606 |
97 | H>Y | No |
ClinGen TOPMed |
|
|
rs528348066 CA243403602 |
99 | P>S | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1362686095 CA386624635 |
100 | A>T | No |
ClinGen gnomAD |
|
|
rs1160294978 CA386624630 |
100 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1566000007 CA386624626 |
101 | G>V | No |
ClinGen Ensembl |
|
|
rs992309556 CA243403599 |
102 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1407214212 CA386624611 |
103 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM934779 rs779180728 CA243403595 |
105 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 109 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267887286 CA386624572 |
110 | L>M | No |
ClinGen gnomAD |
|
|
CA386624558 rs1256070930 |
112 | P>L | No |
ClinGen TOPMed |
|
|
CA243403591 rs969620813 |
116 | H>R | No |
ClinGen Ensembl |
|
|
rs1593773948 CA386624536 |
116 | H>Y | No |
ClinGen Ensembl |
|
|
CA243403587 rs957012985 |
118 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA386624489 rs768254213 CA243403482 |
120 | M>I | No |
ClinGen TOPMed |
|
|
CA386624494 rs1466040939 |
120 | M>V | No |
ClinGen gnomAD |
|
|
rs774643957 CA6775845 |
121 | S>N | No |
ClinGen ExAC |
|
|
rs1264086210 CA386624474 |
122 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA243403476 rs551517487 |
125 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1184010840 CA386624450 |
126 | G>E | No |
ClinGen gnomAD |
|
|
rs1414051523 CA386624453 |
126 | G>R | No |
ClinGen gnomAD |
|
|
CA386624420 rs1270327973 |
131 | S>P | No |
ClinGen gnomAD |
|
|
rs948322122 CA243403472 |
132 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs896702979 CA243403465 |
133 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6775844 rs771207247 |
135 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs763259820 CA6775843 |
136 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs11609341 CA6775841 VAR_059300 |
137 | P>L | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA386624386 rs1322617957 |
137 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 143 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447429592 CA386624340 |
144 | T>S | No |
ClinGen gnomAD |
|
|
CA243403441 rs982248955 |
149 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA243403422 rs745671013 |
152 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386624285 rs745671013 |
152 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs75148933 CA6775838 |
152 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA243403407 rs868076995 |
153 | G>A | No |
ClinGen Ensembl |
|
|
CA386624284 rs1410622809 |
153 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1385016208 CA386624270 |
155 | Q>P | No |
ClinGen gnomAD |
|
|
rs1385016208 CA386624269 |
155 | Q>R | No |
ClinGen gnomAD |
|
|
rs745311852 CA6775837 |
156 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6775828 rs759663462 |
157 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1417648139 CA386624216 |
161 | G>D | No |
ClinGen TOPMed |
|
|
rs1417648139 CA386624218 |
161 | G>V | No |
ClinGen TOPMed |
|
|
rs1258683192 CA386624213 |
162 | L>F | No |
ClinGen gnomAD |
|
|
CA6775827 rs751654854 |
164 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302863501 CA386624194 |
165 | P>H | No |
ClinGen gnomAD |
|
|
CA243403125 rs1013909881 |
165 | P>S | No |
ClinGen TOPMed |
|
|
CA6775825 rs552977137 |
166 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552977137 CA6775824 |
166 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552977137 CA243403118 |
166 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766557608 CA386624191 |
166 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6775826 rs766557608 |
166 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1383290015 CA386624177 |
168 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1401419642 CA386624181 |
168 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243403106 rs534934360 CA243403111 |
169 | V>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA243403101 rs958198313 |
170 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1030853041 CA243403097 |
170 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA386624171 rs958198313 COSM1195574 |
170 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA386624167 rs1301329255 |
171 | P>T | No |
ClinGen TOPMed |
|
|
CA386624160 rs1480131603 |
172 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA386624143 rs1487396236 |
174 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1443114334 CA386624148 |
174 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386624133 rs867991777 |
176 | P>A | No |
ClinGen gnomAD |
|
|
rs1204323891 CA386624131 |
176 | P>R | No |
ClinGen gnomAD |
|
|
CA386624134 rs867991777 |
176 | P>S | No |
ClinGen gnomAD |
|
|
rs867991777 CA243403090 |
176 | P>T | No |
ClinGen gnomAD |
|
|
CA386624123 rs1345710292 |
177 | H>Q | No |
ClinGen gnomAD |
|
|
rs1479964341 CA386624113 |
179 | A>S | No |
ClinGen TOPMed |
|
|
CA386624110 rs1195542526 |
179 | A>V | No |
ClinGen TOPMed |
|
|
rs1257672307 CA386624104 |
180 | V>G | No |
ClinGen gnomAD |
|
|
rs1322260384 CA386624084 |
183 | S>F | No |
ClinGen gnomAD |
|
|
CA386624068 rs1278225053 |
185 | E>D | No |
ClinGen gnomAD |
|
|
rs999794714 CA243403084 |
186 | L>R | No |
ClinGen TOPMed |
|
|
CA243403083 rs999160211 |
187 | H>Y | No |
ClinGen gnomAD |
|
|
CA243403082 rs902729445 |
188 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 189 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318158941 CA386624002 |
195 | I>S | No |
ClinGen gnomAD |
|
|
rs747820011 CA6775777 |
200 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA243402401 rs995297119 |
203 | A>G | No |
ClinGen TOPMed |
|
|
CA6775775 rs755341712 |
203 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs368799988 CA243402387 |
210 | K>N | No |
ClinGen ESP |
|
|
CA6775773 rs577259342 |
213 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs896901387 CA243402376 |
217 | S>N | No |
ClinGen Ensembl |
|
|
CA386623739 rs144381946 |
217 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750462584 CA6775771 |
218 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775770 rs765405105 |
221 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs536905403 CA6775769 |
224 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386623677 rs1350505906 |
225 | E>D | No |
ClinGen gnomAD |
|
|
rs1288544734 CA386623683 |
225 | E>Q | No |
ClinGen gnomAD |
|
|
rs767244760 CA6775766 |
226 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs754057956 CA6775767 |
226 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA386623659 rs1565999178 |
228 | P>L | No |
ClinGen Ensembl |
|
|
rs759326152 CA6775765 |
229 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA6775763 rs766234647 |
231 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA6775743 rs764687840 |
232 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386623607 rs1359857946 |
234 | P>S | No |
ClinGen TOPMed |
|
|
rs1555242025 CA6775740 |
235 | D>N | No |
ClinGen Ensembl |
|
|
CA386623588 rs1593770763 |
237 | W>G | No |
ClinGen Ensembl |
|
|
COSM3384012 CA386623552 rs1454520467 |
242 | R>W | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1167906218 CA386623521 |
247 | L>M | No |
ClinGen gnomAD |
|
|
rs967598205 CA243401611 |
252 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6775735 rs147176302 |
257 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1443385885 CA386623428 |
259 | S>I | No |
ClinGen gnomAD |
|
|
rs377289723 CA6775733 |
260 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377289723 CA6775732 |
260 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1358608 CA386623414 rs1481675280 |
261 | S>F | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1593770621 CA386623419 |
261 | S>P | No |
ClinGen Ensembl |
|
|
CA6775729 rs756382561 |
263 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6775728 rs752891277 |
263 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs994920166 CA243401554 |
265 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6775727 rs779861244 |
266 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA386478096 rs1440321749 |
267 | L>P | No |
ClinGen TOPMed |
|
|
CA386478044 rs1233103625 |
269 | A>G | No |
ClinGen TOPMed |
|
|
CA6775724 rs765167447 |
269 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA386478005 rs1440958289 |
272 | L>V | No |
ClinGen TOPMed |
|
|
rs753454851 CA386477963 |
274 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs753454851 CA6775722 |
274 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM934774 CA386477961 rs377055340 |
274 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377055340 CA6775721 |
274 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1510741 rs760454405 CA6775720 |
275 | I>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs373055287 COSM256982 CA243401480 |
276 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
|
CA386477911 rs1555241992 |
277 | K>E | No |
ClinGen Ensembl |
|
|
rs1165912939 CA386477903 |
277 | K>R | No |
ClinGen gnomAD |
|
|
CA243401470 rs868824637 |
278 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 281 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386477774 rs1413716773 |
282 | M>T | No |
ClinGen TOPMed |
|
|
rs939953879 CA243401469 |
285 | W>C | No |
ClinGen Ensembl |
|
|
CA386477689 rs1423095193 |
285 | W>R | No |
ClinGen gnomAD |
|
|
rs1565998627 CA386477554 |
288 | K>R | No |
ClinGen Ensembl |
|
|
rs1421341840 CA386477524 |
289 | D>E | No |
ClinGen gnomAD |
|
|
CA6775718 rs772585516 |
289 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1248519622 CA386477514 |
290 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1050785764 CA243401432 |
294 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1176688911 CA386477426 |
294 | H>Y | No |
ClinGen gnomAD |
|
|
rs774724083 CA6775716 |
295 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6775717 rs759920877 |
295 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386477366 rs1357050203 |
296 | S>T | No |
ClinGen gnomAD |
|
|
CA386477337 rs1290685288 |
297 | M>T | No |
ClinGen gnomAD |
|
|
CA243401394 rs749741599 |
298 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771534140 CA6775715 |
298 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6775714 rs749741599 |
298 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777792764 CA386475978 |
303 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229108968 CA386475967 |
304 | D>G | No |
ClinGen gnomAD |
|
|
rs140167217 CA6775661 |
308 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6775658 rs751137377 |
309 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA386475938 rs267603292 |
309 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs267603292 CA6775659 |
309 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6775656 rs763175655 |
310 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6775657 rs766794489 |
310 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775655 rs773724568 |
312 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546801303 CA6775652 |
315 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762307757 CA6775654 |
315 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs139066057 CA6775651 |
316 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61741949 CA6775650 |
316 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751246044 CA6775649 |
317 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775647 rs748968074 |
318 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775646 rs777704912 |
320 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748071549 CA6775644 |
321 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs142013051 CA6775643 |
322 | E>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1385671217 CA386475862 |
322 | E>G | No |
ClinGen gnomAD |
|
|
CA386475848 rs1330899605 |
324 | E>G | No |
ClinGen gnomAD |
|
|
rs779516940 CA386475844 |
325 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs779516940 CA6775640 |
325 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs758796976 CA6775639 |
325 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6775637 COSM3416444 rs533374418 |
327 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs762356924 CA6775636 |
328 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386475820 rs1472393622 |
329 | T>I | No |
ClinGen gnomAD |
|
|
CA386475813 rs560101502 |
330 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386475819 rs1183333928 |
330 | H>Y | No |
ClinGen gnomAD |
|
|
CA386475811 rs1249345415 |
331 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1165780788 CA386475794 |
333 | T>I | No |
ClinGen TOPMed |
|
|
rs893573279 CA243398538 |
334 | V>A | No |
ClinGen Ensembl |
|
|
CA6775631 rs138453120 |
336 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6775630 rs138453120 COSM3376108 |
336 | V>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs759819045 CA386475775 |
337 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236949549 CA386475778 |
337 | A>T | No |
ClinGen gnomAD |
|
|
CA6775629 rs759819045 COSM171505 |
337 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs769676620 CA6775627 |
339 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769676620 CA386475761 |
339 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406943320 CA386475765 |
339 | G>S | No |
ClinGen gnomAD |
|
|
rs1300992685 CA386475754 |
340 | C>* | No |
ClinGen gnomAD |
|
|
rs1364950713 CA386475755 |
340 | C>F | No |
ClinGen TOPMed |
|
|
rs1408593704 CA386475735 |
344 | S>P | No |
ClinGen gnomAD |
|
|
CA6775626 rs748124456 |
345 | Q>P | No |
ClinGen ExAC |
|
|
CA6775625 rs781223991 |
346 | L>F | No |
ClinGen ExAC |
|
|
CA6775624 rs768223622 |
346 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA386475716 rs1468179800 |
347 | P>S | No |
ClinGen gnomAD |
|
|
CA6775621 rs758048973 |
348 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA386475712 rs1199714234 |
348 | P>T | No |
ClinGen gnomAD |
|
|
CA386475703 rs1221281168 |
349 | Q>R | No |
ClinGen gnomAD |
|
|
CA386475649 rs1286920139 |
354 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6775618 rs757579785 |
355 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775342049 CA243398483 |
356 | L>R | No |
ClinGen Ensembl |
|
|
rs1283944311 CA386475601 |
358 | S>* | No |
ClinGen gnomAD |
|
|
rs1012509117 CA243398480 |
358 | S>P | No |
ClinGen Ensembl |
|
|
rs1225590774 CA386475587 |
359 | V>A | No |
ClinGen gnomAD |
|
|
rs1435451015 CA386475573 |
360 | P>R | No |
ClinGen gnomAD |
|
|
rs62640914 CA6775616 |
360 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6775615 rs761238709 |
361 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1345520103 CA386475569 |
361 | L>V | No |
ClinGen gnomAD |
|
|
rs571119975 CA6775614 |
362 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775613 rs767612046 |
364 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA386475510 rs1481245835 |
364 | Q>H | No |
ClinGen gnomAD |
|
|
rs1191022481 CA386475472 |
367 | P>S | No |
ClinGen gnomAD |
|
|
CA6775611 rs774671487 |
368 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA386475435 rs1214297617 |
369 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1391400571 CA386475426 |
370 | H>R | No |
ClinGen Ensembl |
|
|
CA6775610 rs765143345 |
371 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386475386 rs1164090286 |
373 | P>L | No |
ClinGen TOPMed |
|
|
rs1263911112 CA386475371 |
374 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA386475309 rs142107769 |
379 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142107769 CA6775608 |
379 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746954105 CA6775606 |
380 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs78569015 CA6775605 |
381 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428629584 CA386475270 |
382 | P>S | No |
ClinGen gnomAD |
|
|
CA6775602 rs778491260 |
383 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1403216048 CA386475244 |
384 | L>R | No |
ClinGen gnomAD |
|
|
rs368801239 CA6775601 |
386 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749716449 CA6775600 |
387 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs778183505 CA6775599 |
388 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1185141312 CA386475185 |
388 | P>T | No |
ClinGen gnomAD |
|
|
rs753213296 CA6775597 |
392 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs767524665 CA6775596 |
393 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767524665 CA386475078 |
393 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6775595 rs145199948 |
394 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6775593 rs766639630 |
395 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6775590 rs374757575 |
397 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6775592 rs374757575 COSM3398323 |
397 | H>N | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs760573591 CA6775589 |
397 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA386474503 rs1164856506 |
397 | H>Q | No |
ClinGen Ensembl |
|
|
rs374757575 CA6775591 |
397 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201494583 CA6775588 |
398 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6775585 rs146550988 |
399 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386474488 rs146550988 |
399 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146550988 CA6775584 |
399 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1301686764 CA386474479 |
400 | M>L | No |
ClinGen gnomAD |
|
|
CA6775582 rs748944698 |
400 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355909073 CA386474469 |
401 | G>R | No |
ClinGen gnomAD |
|
|
CA6775581 rs778035695 |
401 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA386474432 rs756461387 |
402 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs748624728 CA6775579 |
402 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA243398329 rs867172117 |
403 | A>V | No |
ClinGen Ensembl |
|
|
CA6775578 rs781681344 |
404 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781681344 CA386474380 |
404 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 405 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 406 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386474298 rs1177837201 |
407 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs546864463 CA6775576 |
409 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs546864463 CA386474274 |
409 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766555670 CA6775575 |
411 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs989346417 CA243398320 |
413 | D>E | No |
ClinGen Ensembl |
|
|
COSM1706248 rs369321450 CA6775573 |
413 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1278134862 CA386474125 |
414 | M>I | No |
ClinGen gnomAD |
|
|
rs763831367 CA6775572 |
414 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386474099 rs1319853135 |
416 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 416 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386474077 rs1311465484 |
417 | E>G | No |
ClinGen gnomAD |
|
|
CA6775570 rs752593520 |
419 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs767378016 CA6775569 |
420 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA243398294 rs757089691 |
422 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs773896393 CA6775567 |
423 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6775566 COSM3398321 rs770392574 |
423 | P>L | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs368685863 CA243398277 |
424 | S>N | No |
ClinGen Ensembl |
|
|
CA6775563 rs770067623 |
426 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs200530470 CA6775564 |
426 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386473792 rs1565996726 |
427 | D>E | No |
ClinGen Ensembl |
|
|
rs1478612633 CA386473796 |
427 | D>V | No |
ClinGen TOPMed |
|
|
CA6775561 rs200750509 COSM934772 |
429 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA386473722 rs201531393 |
431 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6775560 rs201531393 |
431 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769554288 CA6775544 |
433 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA6775542 rs761359988 |
437 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386473379 rs777185664 |
438 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs777185664 CA6775541 |
438 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs140404797 CA6775539 |
440 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140404797 CA6775540 |
440 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6775538 rs780663205 |
440 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775537 rs772062598 |
441 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384493981 CA386473333 |
441 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
COSM1207446 rs144504080 CA6775533 |
450 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA386473218 rs1465669444 |
450 | A>V | No |
ClinGen gnomAD |
|
|
rs373292889 CA6775532 |
454 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754715628 CA243397133 |
455 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754715628 CA6775531 |
455 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758263527 CA6775528 |
458 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1461397219 CA386473049 |
460 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 463 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243397130 rs1002698716 |
464 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6775527 rs375715687 |
464 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1343848584 CA386472979 |
465 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA386472949 rs1252319670 |
466 | T>N | No |
ClinGen gnomAD |
|
|
rs1593762824 CA386472962 |
466 | T>P | No |
ClinGen Ensembl |
|
|
rs764633302 CA6775526 |
468 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775525 rs761568029 |
469 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386472892 rs1385087154 |
470 | G>S | No |
ClinGen gnomAD |
|
|
CA243397059 rs764575314 |
472 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761068034 CA6775522 |
473 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6775520 rs772704751 |
478 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs776147885 CA6775521 |
478 | D>G | No |
ClinGen ExAC |
|
|
CA6775519 rs140537758 |
479 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774527214 CA386472605 |
480 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774527214 CA6775518 |
480 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6775517 rs141463777 |
480 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1382451838 CA386472575 |
481 | V>M | No |
ClinGen TOPMed |
|
|
CA6775514 rs200708160 |
482 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6775515 rs200708160 |
482 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA386472467 rs1184763325 |
484 | L>V | No |
ClinGen gnomAD |
|
|
CA386472437 rs1441542112 |
485 | Y>C | No |
ClinGen gnomAD |
|
|
CA243396999 rs934188680 |
486 | T>I | No |
ClinGen gnomAD |
|
|
CA386472375 rs1482284489 |
487 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 488 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750298439 CA6775510 |
491 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386472234 rs1282548162 |
492 | D>N | No |
ClinGen gnomAD |
|
|
rs756779796 CA6775508 |
493 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1331153820 CA386472201 |
493 | S>N | No |
ClinGen gnomAD |
|
|
rs1408171824 CA386472150 |
495 | A>V | No |
ClinGen gnomAD |
|
|
rs372454360 CA6775507 |
496 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243396950 rs975674045 |
497 | S>L | No |
ClinGen gnomAD |
|
|
rs763777336 CA6775506 |
497 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160997336 CA386472125 |
498 | G>D | No |
ClinGen gnomAD |
|
|
rs1183901024 CA386472094 |
500 | S>I | No |
ClinGen gnomAD |
|
|
CA6775503 rs563824540 |
500 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1593762649 CA386472101 |
500 | S>R | No |
ClinGen Ensembl |
|
|
CA386472055 rs1251615705 |
502 | S>F | No |
ClinGen gnomAD |
|
|
CA243396903 rs868826036 |
504 | Q>* | No |
ClinGen Ensembl |
|
|
rs1490994967 CA386472001 |
504 | Q>H | No |
ClinGen gnomAD |
|
|
rs1593762633 CA386472006 |
504 | Q>P | No |
ClinGen Ensembl |
|
|
rs774668643 CA6775501 |
505 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA386471947 rs1209714178 |
506 | L>P | No |
ClinGen gnomAD |
|
|
CA386471938 rs1351510436 |
507 | G>D | No |
ClinGen gnomAD |
|
|
CA243396897 rs967883999 |
508 | A>S | No |
ClinGen Ensembl |
|
|
rs1024423795 CA243396890 |
509 | Q>P | No |
ClinGen Ensembl |
|
|
CA386471899 rs1281290102 |
510 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6775498 rs199803671 |
511 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243396867 rs992896013 |
513 | P>L | No |
ClinGen Ensembl |
|
|
CA386471849 rs1287544986 |
514 | I>V | No |
ClinGen gnomAD |
|
|
rs1405301596 CA386471831 |
515 | A>P | No |
ClinGen gnomAD |
|
|
rs1404626746 CA386471798 |
517 | L>F | No |
ClinGen gnomAD |
No associated diseases with Q96NZ1
9 regional properties for Q96NZ1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ABC transporter-like, ATP-binding domain | 601 - 824 | IPR003439-1 |
| domain | ABC transporter-like, ATP-binding domain | 1219 - 1453 | IPR003439-2 |
| domain | AAA+ ATPase domain | 628 - 801 | IPR003593-1 |
| domain | AAA+ ATPase domain | 1245 - 1430 | IPR003593-2 |
| domain | ABC transporter type 1, transmembrane domain | 287 - 567 | IPR011527-1 |
| domain | ABC transporter type 1, transmembrane domain | 902 - 1182 | IPR011527-2 |
| conserved_site | ABC transporter-like, conserved site | 726 - 740 | IPR017871 |
| domain | ABC transporter C family, six-transmembrane helical domain 2 | 900 - 1194 | IPR044726 |
| domain | ABC transporter C family, six-transmembrane helical domain 1 | 288 - 575 | IPR044746 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by some RNA polymerase. The proximal promoter is in cis with and relatively close to the core promoter. |
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| amacrine cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of an amacrine cell, an interneuron generated in the inner nuclear layer (INL) of the vertebrate retina. Amacrine cells integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer. Amacrine cells lack large axons. |
| atrioventricular canal development | The progression of the atrioventricular canal over time, from its formation to the mature structure. The atrioventricular canal is the part of the heart connecting the atrium to the cardiac ventricle. |
| heart looping | The tube morphogenesis process in which the primitive heart tube loops asymmetrically. This looping brings the primitive heart chambers into alignment preceding their future integration. Heart looping begins with dextral-looping and ends when the main regional divisions of the mature heart and primordium of the great arterial trunks become established preceeding septation. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of heart contraction | Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body. |
| retina layer formation | The process in which the vertebrate retina is organized into three laminae: the outer nuclear layer (ONL), which contains photoreceptor nuclei; the inner nuclear layer (INL), which contains amacrine, bipolar and horizontal cells; and the retinal ganglion cell (RGC) layer. Between the inner and outer nuclear layers, the outer plexiform layer (OPL) contains connections between the photoreceptors and bipolar and horizontal cells. The inner plexiform layer (IPL) is positioned between the INL and the ganglion cell layer and contains the dendrites of RGCs and processes of bipolar and amacrine cells. Spanning all layers of the retina are the radially oriented Mueller glia. |
| ventral spinal cord interneuron differentiation | The process in which neuroepithelial cells in the neural tube acquire specialized structural and/or functional features of ventral spinal cord interneurons. Ventral spinal cord interneurons are cells located in the ventral portion of the spinal cord that transmit signals between sensory and motor neurons and are required for reflexive responses. Differentiation includes the processes involved in commitment of a cell to a specific fate. |
| ventral spinal cord interneuron fate commitment | The process in which the developmental fate of a cell becomes restricted such that it will develop into a ventral spinal cord interneuron. Ventral spinal cord interneurons are cells located in the ventral portion of the spinal cord that transmit signals between sensory and motor neurons and are required for reflexive responses. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32031 | slp2 | Fork head domain transcription factor slp2 | Drosophila melanogaster (Fruit fly) | PR |
| Q08050 | FOXM1 | Forkhead box protein M1 | Homo sapiens (Human) | EV |
| Q12948 | FOXC1 | Forkhead box protein C1 | Homo sapiens (Human) | PR |
| O15353 | FOXN1 | Forkhead box protein N1 | Homo sapiens (Human) | PR |
| Q61572 | Foxc1 | Forkhead box protein C1 | Mus musculus (Mouse) | PR |
| O08696 | Foxm1 | Forkhead box protein M1 | Mus musculus (Mouse) | PR |
| Q8K3Q3 | Foxn4 | Forkhead box protein N4 | Mus musculus (Mouse) | PR |
| P97691 | Foxm1 | Forkhead box protein M1 | Rattus norvegicus (Rat) | PR |
| Q28H65 | foxn5 | Forkhead box protein N5 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| A2BGM5 | foxn4 | Forkhead box protein N4 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MIESDTSSIM | SGIIRNSGQN | HHPSPQEYRL | LATTSDDDLP | GDLQSLSWLT | AVDVPRLQQM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ASGRVDLGGP | CVPHPHPGAL | AGVADLHVGA | TPSPLLHGPA | GMAPRGMPGL | GPITGHRDSM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SQFPVGGQPS | SGLQDPPHLY | SPATQPQFPL | PPGAQQCPPV | GLYGPPFGVR | PPYPQPHVAV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HSSQELHPKH | YPKPIYSYSC | LIAMALKNSK | TGSLPVSEIY | SFMKEHFPYF | KTAPDGWKNS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VRHNLSLNKC | FEKVENKMSG | SSRKGCLWAL | NLARIDKMEE | EMHKWKRKDL | AAIHRSMANP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EELDKLISDR | PESCRRPGKP | GEPEAPVLTH | ATTVAVAHGC | LAVSQLPPQP | LMTLSLQSVP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LHHQVQPQAH | LAPDSPAPAQ | TPPLHALPDL | SPSPLPHPAM | GRAPVDFINI | STDMNTEVDA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LDPSIMDFAL | QGNLWEEMKD | EGFSLDTLGA | FADSPLGCDL | GASGLTPASG | GSDQSFPDLQ |
| 490 | 500 | 510 | |||
| VTGLYTAYST | PDSVAASGTS | SSSQYLGAQG | NKPIALL |