Q9BVW5
Gene name |
TIPIN |
Protein name |
TIMELESS-interacting protein |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54962 |
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
4 structures for Q9BVW5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7PFO | EM | 320 A | L | 1-301 | PDB |
| 7PLO | EM | 280 A | L | 1-301 | PDB |
| 8B9D | EM | 340 A | L | 1-301 | PDB |
| AF-Q9BVW5-F1 | Predicted | AlphaFoldDB |
234 variants for Q9BVW5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs565441627 CA7623827 |
2 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7623826 rs762481231 |
4 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs748747093 CA271654683 |
7 | N>D | No |
ClinGen Ensembl |
|
|
rs764985464 CA7623824 |
8 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7623822 rs573461004 |
9 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA392942576 rs1427220808 |
10 | I>T | No |
ClinGen gnomAD |
|
|
rs138329708 CA7623821 |
12 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392942563 rs138329708 |
12 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7623820 rs760704351 |
13 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7623819 rs775504121 |
14 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7623818 rs772077095 |
14 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392942528 rs1566977398 |
17 | H>Q | No |
ClinGen Ensembl |
|
|
CA392942531 rs1413244752 |
17 | H>R | No |
ClinGen TOPMed |
|
|
rs774275285 CA7623816 |
18 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7623814 rs749497501 CA392942518 |
19 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7623815 rs771225491 |
19 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371297618 CA271654652 |
19 | E>Q | No |
ClinGen ESP TOPMed |
|
|
rs1595799497 CA392942501 |
22 | T>P | No |
ClinGen Ensembl |
|
|
CA271654642 rs201530827 |
23 | F>S | No |
ClinGen 1000Genomes |
|
|
rs1314440345 CA392942484 |
24 | P>L | No |
ClinGen gnomAD |
|
|
rs756403375 CA7623812 |
24 | P>S | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs748683752 CA7623811 |
26 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA392942468 rs1307939967 |
27 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 27 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200999398 CA7623809 |
28 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1595799412 CA392942454 |
29 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 29 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7623806 rs757031264 |
30 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757031264 CA271654610 |
30 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7623807 rs757031264 |
30 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392942451 rs1167209794 |
30 | A>V | No |
ClinGen gnomAD |
|
|
CA7623805 rs150893823 |
31 | S>F | No |
ClinGen ESP ExAC |
|
|
CA392942439 rs1475383244 |
33 | E>K | No |
ClinGen gnomAD |
|
|
CA392942430 rs1355097050 |
34 | R>G | No |
ClinGen TOPMed |
|
|
rs375749313 CA7623804 |
35 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375749313 CA7623803 |
35 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392942414 rs1484033481 |
36 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1484033481 CA392942413 |
36 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs141529487 CA7623802 |
37 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767540271 CA7623801 |
37 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA392942410 rs141529487 |
37 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392942400 rs11538105 |
38 | E>D | No |
ClinGen gnomAD |
|
|
CA392942406 rs1190271765 |
38 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1465563620 CA392942388 |
40 | T>S | No |
ClinGen gnomAD |
|
|
rs770856816 CA7623798 |
42 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770163296 CA7623795 |
44 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392942357 rs781378167 |
45 | E>* | No |
ClinGen ExAC gnomAD |
|
|
COSM1493460 rs781378167 CA7623793 |
45 | E>K | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs770038398 CA7623776 |
46 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1176444497 CA392942308 |
50 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 52 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762015200 CA7623775 |
52 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs9806123 CA392942292 |
53 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs9806123 CA7623774 VAR_035194 |
53 | R>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1161756891 CA392942291 |
54 | V>I | No |
ClinGen TOPMed |
|
|
rs115121189 CA7623772 |
55 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 57 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1393182763 CA392942228 |
63 | N>S | No |
ClinGen gnomAD |
|
|
CA392942221 rs1444800412 |
64 | I>T | No |
ClinGen TOPMed |
|
|
rs777386587 CA7623768 |
64 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs755899670 CA7623767 |
65 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752232000 CA7623766 |
66 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343563871 CA392942211 |
66 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 70 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754689583 CA7623764 |
70 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 71 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392941963 rs1357155929 |
72 | L>F | No |
ClinGen gnomAD |
|
|
rs1409175009 CA392941931 |
75 | E>K | No |
ClinGen gnomAD |
|
|
CA7623716 rs566108118 |
76 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758385810 CA7623715 |
76 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA392941845 rs1161119644 |
81 | L>* | No |
ClinGen gnomAD |
|
|
CA392941849 rs1412536020 |
81 | L>V | No |
ClinGen gnomAD |
|
|
CA7623714 rs375119775 |
82 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7623713 rs765309272 |
87 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA392941767 rs1268020981 |
88 | A>T | No |
ClinGen TOPMed |
|
|
CA7623712 rs761762353 |
89 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA392941701 rs1483050451 |
92 | G>A | No |
ClinGen gnomAD |
|
|
CA271653959 rs373239549 |
93 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7623711 rs373239549 |
93 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1206635908 CA392941690 |
93 | K>N | No |
ClinGen gnomAD |
|
|
rs1289358965 CA392941682 |
94 | G>D | No |
ClinGen gnomAD |
|
|
CA7623710 rs549576831 |
94 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs760920977 | 96 | E>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760920977 CA392941657 |
96 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1226866204 CA392941667 |
96 | E>K | No |
ClinGen gnomAD |
|
|
rs1156973271 CA392941334 |
98 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 101 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7623695 rs758125707 |
102 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7623693 rs148813972 |
104 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs569410680 CA7623691 |
106 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 106 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA271652800 rs201114661 |
106 | H>Q | No |
ClinGen 1000Genomes |
|
|
CA7623690 rs145644256 |
107 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752911952 CA7623688 |
109 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs2063690 CA7623686 |
111 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7623684 VAR_035195 rs2063690 |
111 | A>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA392941184 rs1566975341 |
111 | A>P | No |
ClinGen Ensembl |
|
|
rs2063690 CA7623685 |
111 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392941179 rs1442483261 |
112 | H>Y | No |
ClinGen gnomAD |
|
|
CA271652722 rs563205164 |
113 | R>G | No |
ClinGen Ensembl |
|
|
CA392941163 rs1319512793 |
113 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 116 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778074456 CA271652706 |
118 | L>R | No |
ClinGen Ensembl |
|
|
rs11538107 CA271652705 |
119 | Q>* | No |
ClinGen Ensembl |
|
|
CA392941097 rs768151887 |
121 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7623680 rs768151887 |
121 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392941090 rs1420271380 |
122 | D>N | No |
ClinGen gnomAD |
|
|
rs1424531379 CA392941054 |
126 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 127 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7623677 rs775086729 |
131 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs190019854 CA7623676 |
132 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1484753180 CA392941010 |
133 | K>T | No |
ClinGen gnomAD |
|
|
CA271652435 rs755062992 |
139 | C>Y | No |
ClinGen gnomAD |
|
|
CA7623657 rs774962377 |
140 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7623656 rs771755903 |
142 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3420544 rs76072153 CA392940914 |
142 | R>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7623655 rs76072153 COSM258183 |
142 | R>Q | Variant assessed as Somatic; 9.254e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM964219 rs774073117 CA7623654 |
144 | R>* | endometrium Variant assessed as Somatic; 4.626e-05 impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA271652400 rs774073117 |
144 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392940905 rs770703850 |
144 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA7623653 rs770703850 |
144 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1365027835 CA392940900 |
145 | L>P | No |
ClinGen TOPMed |
|
|
CA7623652 rs200514985 |
146 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1595794362 CA392940876 |
149 | I>T | No |
ClinGen Ensembl |
|
|
rs140845772 CA271652373 |
149 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs76604393 CA271652368 |
151 | H>P | No |
ClinGen Ensembl |
|
|
rs748277714 CA7623649 |
154 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs77256183 CA271652347 |
155 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA392940822 rs1274467117 |
157 | N>D | No |
ClinGen TOPMed |
|
|
rs1292506661 CA392940522 |
159 | D>G | No |
ClinGen gnomAD |
|
|
CA7623575 rs753754622 |
161 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1357220802 CA392940500 |
162 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7623573 rs760674828 |
164 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392940483 rs1440774356 |
165 | N>D | No |
ClinGen gnomAD |
|
|
CA7623572 rs752514038 |
165 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA392940476 rs1432070246 |
166 | E>K | No |
ClinGen TOPMed |
|
|
rs759488177 CA7623569 |
170 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA271647681 rs868643762 |
171 | S>Y | No |
ClinGen Ensembl |
|
|
rs1420587772 CA392940415 |
175 | D>Y | No |
ClinGen gnomAD |
|
|
CA271647653 rs956802987 |
178 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs539879797 CA7623566 |
180 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 182 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206869335 CA392940366 |
182 | S>F | No |
ClinGen gnomAD |
|
|
rs144764364 CA7623564 |
182 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7623563 rs769981626 |
184 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1272794615 CA392940340 |
186 | M>L | No |
ClinGen gnomAD |
|
|
CA392940316 rs1211551137 |
189 | S>Y | No |
ClinGen gnomAD |
|
|
rs574183014 CA392940295 |
192 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs574183014 CA7623561 |
192 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs574183014 CA7623562 |
192 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392940254 rs1293812704 |
198 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 198 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7623560 rs769182311 |
199 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7623559 rs745413570 |
201 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1344606843 CA392940223 |
202 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 203 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392940217 rs1216062785 |
203 | I>T | No |
ClinGen TOPMed |
|
|
CA392940195 rs1287480698 |
206 | N>S | No |
ClinGen TOPMed |
|
|
rs757029201 CA7623557 |
211 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs753483864 CA7623556 |
212 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1595784327 CA392940135 |
215 | Q>* | No |
ClinGen Ensembl |
|
|
CA7623555 rs777632768 |
215 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1397190999 CA392940107 |
219 | L>R | No |
ClinGen gnomAD |
|
|
rs1400694852 CA392940103 |
220 | S>N | No |
ClinGen gnomAD |
|
|
rs1222294098 CA392940097 |
221 | N>D | No |
ClinGen TOPMed |
|
|
rs767406170 CA7623552 |
222 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs759463833 CA7623551 |
225 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7623550 rs751692954 |
226 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392940060 rs1248208786 |
227 | N>H | No |
ClinGen TOPMed |
|
|
CA7623535 rs747936027 |
229 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7623534 rs781026068 |
231 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7623533 rs754919776 |
232 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs751428475 CA7623532 |
233 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360379047 CA392940002 |
233 | T>P | No |
ClinGen gnomAD |
|
|
CA392939996 rs1374914584 |
234 | P>A | No |
ClinGen gnomAD |
|
|
CA392939995 rs1374914584 |
234 | P>S | No |
ClinGen gnomAD |
|
|
rs758424468 CA7623530 |
236 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA7623529 rs750492896 |
238 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750492896 CA392939967 |
238 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1054843997 CA271645217 |
239 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1400695441 CA392939958 |
240 | E>A | No |
ClinGen TOPMed |
|
|
rs1566968910 CA392939946 |
241 | E>D | No |
ClinGen Ensembl |
|
|
rs1566968921 CA392939949 |
241 | E>G | No |
ClinGen Ensembl |
|
|
CA7623526 rs369278653 |
243 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1382940486 CA392939927 |
244 | T>I | No |
ClinGen gnomAD |
|
|
CA392939921 rs1485269391 |
245 | D>V | No |
ClinGen gnomAD |
|
|
CA7623524 rs575302613 |
249 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392939879 rs1483305950 |
251 | E>* | No |
ClinGen gnomAD |
|
|
CA392939876 rs1250395853 |
251 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA392939875 rs1250395853 |
251 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1483305950 CA392939877 |
251 | E>K | No |
ClinGen gnomAD |
|
|
CA271645144 rs528422551 |
255 | L>* | No |
ClinGen 1000Genomes |
|
|
COSM3816608 rs1219650817 CA392939837 |
257 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA271645120 rs748858524 |
259 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7623519 rs748858524 |
259 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7623518 rs3759787 VAR_053952 COSM147946 |
260 | L>P | stomach [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs769387299 CA7623517 |
262 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs756153537 CA7623515 |
264 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA7623516 rs747775116 |
264 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA392939787 rs1297816223 |
264 | C>Y | No |
ClinGen gnomAD |
|
|
CA392939782 rs1566968772 |
265 | N>Y | No |
ClinGen Ensembl |
|
|
VAR_035196 CA7623514 rs3759786 |
267 | A>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7623513 rs754724009 |
268 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs201269482 CA271645092 |
269 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs34848112 CA7623512 VAR_062207 |
270 | N>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs34848112 CA271645083 |
270 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780014564 VAR_054483 CA7623511 |
270 | N>S | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA271645075 rs28533152 |
272 | L>F | No |
ClinGen Ensembl |
|
|
rs758299521 CA7623510 |
272 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249291973 CA392939712 |
276 | E>K | No |
ClinGen gnomAD |
|
|
rs111901689 CA271645064 |
277 | T>A | No |
ClinGen Ensembl |
|
|
CA392939692 rs1481378193 |
279 | L>Q | No |
ClinGen gnomAD |
|
|
CA271645061 rs376496781 |
280 | D>E | No |
ClinGen ESP |
|
|
rs750533050 CA7623509 |
280 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA392939682 rs765347481 |
281 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7623508 rs765347481 |
281 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7623507 rs201129710 |
283 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754026817 CA7623506 |
286 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs764585172 CA7623505 |
288 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs775978283 CA271645035 |
289 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775978283 CA7623503 |
289 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7623502 rs768182185 |
290 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379340789 CA392939618 |
290 | L>P | No |
ClinGen gnomAD |
|
|
rs1352961437 CA392939616 |
291 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 292 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7623500 rs148498973 |
294 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA271645023 rs922506490 |
294 | S>P | No |
ClinGen TOPMed |
|
|
CA392939592 rs1199467954 |
295 | R>G | No |
ClinGen TOPMed |
|
|
CA7623499 rs769278333 |
297 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1167008776 CA392939576 |
297 | I>V | No |
ClinGen gnomAD |
|
|
rs372313875 CA271645014 |
298 | T>P | No |
ClinGen Ensembl |
|
|
CA392939565 rs1363170873 |
299 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 300 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA271644995 rs952008036 |
302 | R>Y | No |
ClinGen Ensembl |
No associated diseases with Q9BVW5
No regional properties for Q9BVW5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9BVW5 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
| replication fork protection complex | A protein complex conserved in eukaryotes and associated with the replication fork; the complex stabilizes stalled replication forks and is thought to be involved in coordinating leading- and lagging-strand synthesis and in replication checkpoint signaling. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cell cycle phase transition | The cell cycle process by which a cell commits to entering the next cell cycle phase. |
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| DNA replication checkpoint signaling | A signal transduction process that contributes to a DNA replication checkpoint, that prevents the initiation of nuclear division until DNA replication is complete, thereby ensuring that progeny inherit a full complement of the genome. |
| mitotic intra-S DNA damage checkpoint signaling | A mitotic cell cycle checkpoint that slows DNA synthesis in response to DNA damage by the prevention of new origin firing and the stabilization of slow replication fork progression. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| regulation of nuclear cell cycle DNA replication | Any process that modulates the frequency, rate or extent of The DNA-dependent DNA replication that occurs in the nucleus of eukaryotic organisms as part of the cell cycle. |
| replication fork arrest | Any process that stops, prevents, or reduces the frequency, rate or extent of DNA replication by impeding the progress of the DNA replication fork. Replication fork arrest is one of the 'quality control' processes ensuring that DNA-dependent DNA replication occurs correctly. DNA replication fork arrest during DNA-dependent DNA replication is not known to occur outside of cases where a replication error needs to be prevented or corrected. |
| replication fork protection | Any process that prevents the collapse of stalled replication forks. |
| response to UV | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q04659 | CSM3 | Chromosome segregation in meiosis protein 3 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q5F416 | TIPIN | TIMELESS-interacting protein | Gallus gallus (Chicken) | PR |
| Q6DBR4 | tipin | TIMELESS-interacting protein | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLEPQENGVI | DLPDYEHVED | ETFPPFPPPA | SPERQDGEGT | EPDEESGNGA | PVRVPPKRTV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KRNIPKLDAQ | RLISERGLPA | LRHVFDKAKF | KGKGHEAEDL | KMLIRHMEHW | AHRLFPKLQF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EDFIDRVEYL | GSKKEVQTCL | KRIRLDLPIL | HEDFVSNNDE | VAENNEHDVT | STELDPFLTN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LSESEMFASE | LSRSLTEEQQ | QRIERNKQLA | LERRQAKLLS | NSQTLGNDML | MNTPRAHTVE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EVNTDEDQKE | ESNGLNEDIL | DNPCNDAIAN | TLNEEETLLD | QSFKNVQQQL | DATSRNITEA |
| R |