Q9BTV5
Gene name |
FSD1 (GLFND, MIR1, VLP27) |
Protein name |
Fibronectin type III and SPRY domain-containing protein 1 |
Names |
MID1-related protein 1, Microtubule-associated protein GLFND |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79187 |
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 Q9BTV5
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q9BTV5-F1 | Predicted | AlphaFoldDB |
416 variants for Q9BTV5
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA403424416 rs1254406229 |
5 | R>G | No |
ClinGen TOPMed |
|
CA403424873 rs1294055489 |
10 | K>N | No |
ClinGen TOPMed |
|
rs1332301511 CA403424884 |
11 | I>F | No |
ClinGen gnomAD |
|
rs759497212 CA403424900 |
11 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1044557733 CA304493549 |
12 | I>F | No |
ClinGen Ensembl |
|
rs767521847 CA9094679 |
12 | I>M | No |
ClinGen ExAC |
|
rs1443573497 CA403424929 |
13 | K>R | No |
ClinGen gnomAD |
|
TCGA novel | 13 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 16 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA403424963 rs1237043905 |
16 | A>T | No |
ClinGen gnomAD |
|
rs76548334 CA304493580 |
17 | V>G | No |
ClinGen gnomAD |
|
CA403424992 rs1346760970 |
18 | K>R | No |
ClinGen gnomAD |
|
rs1208034684 CA403424999 |
19 | N>H | No |
ClinGen TOPMed gnomAD |
|
rs907359822 CA304493595 |
21 | E>D | No |
ClinGen Ensembl |
|
rs763638807 CA9094682 |
22 | I>L | No |
ClinGen ExAC gnomAD |
|
rs146014708 CA9094684 |
24 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs753531486 CA9094683 |
24 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750822840 CA9094686 |
26 | I>M | No |
ClinGen ExAC gnomAD |
|
rs1016229141 CA304493629 |
27 | Y>C | No |
ClinGen gnomAD |
|
CA304493634 rs961644548 |
28 | S>T | No |
ClinGen Ensembl |
|
CA9094687 rs138205709 |
32 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA304493658 rs995934243 |
34 | L>P | No |
ClinGen Ensembl |
|
rs149600547 CA304493640 |
34 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9094690 rs768849275 |
35 | N>S | No |
ClinGen ExAC gnomAD |
|
rs768849275 CA403425246 |
35 | N>T | No |
ClinGen ExAC gnomAD |
|
rs202092717 CA9094693 |
36 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA9094692 rs200096369 |
36 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs771967101 | 38 | A>= | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
CA9094713 rs148301348 |
38 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1476440773 CA403425382 |
39 | N>S | No |
ClinGen gnomAD |
|
COSM178903 CA403425405 rs1189253379 |
40 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
rs774018118 CA304493842 |
40 | S>P | No |
ClinGen Ensembl |
|
CA9094716 rs760615368 |
41 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403425438 rs35696506 CA304493885 |
42 | K>N | No |
ClinGen TOPMed |
|
rs1599532302 CA403425450 |
43 | V>G | No |
ClinGen Ensembl |
|
CA9094718 rs776056358 CA403425445 |
43 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 44 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs761326213 CA9094719 |
44 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1414934397 CA403426091 |
48 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA9094720 rs557470446 |
48 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA403426140 rs1338684308 |
52 | Q>* | No |
ClinGen gnomAD |
|
CA403426154 rs1292829693 |
52 | Q>H | No |
ClinGen Ensembl |
|
rs1037181774 CA304493906 |
54 | L>F | No |
ClinGen Ensembl |
|
rs772916715 CA403426208 |
56 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9094721 rs772916715 |
56 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1310841454 CA403426204 |
56 | S>T | No |
ClinGen gnomAD |
|
rs1351594215 CA403426231 |
57 | L>R | No |
ClinGen gnomAD |
|
TCGA novel | 58 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 59 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9094723 rs766813006 |
60 | E>K | No |
ClinGen ExAC gnomAD |
|
rs369508403 CA304493941 |
63 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA304493944 rs369508403 |
63 | E>Q | No |
ClinGen TOPMed |
|
CA9094725 rs755471437 |
64 | G>S | No |
ClinGen ExAC gnomAD |
|
rs957531738 CA304493962 |
66 | L>F | No |
ClinGen TOPMed |
|
TCGA novel | 66 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1364750115 CA403426405 |
67 | M>I | No |
ClinGen gnomAD |
|
CA403426395 rs1326835929 |
67 | M>T | No |
ClinGen TOPMed |
|
CA403426387 rs1184340445 |
67 | M>V | No |
ClinGen gnomAD |
|
CA403426498 rs1599532372 |
72 | D>A | No |
ClinGen Ensembl |
|
rs778134777 CA9094729 |
73 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403426513 rs778134777 |
73 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749563211 CA9094730 |
73 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757445672 CA9094731 |
74 | A>P | No |
ClinGen ExAC gnomAD |
|
rs779862147 CA9094732 |
74 | A>V | No |
ClinGen ExAC gnomAD |
|
rs913409257 CA304493985 |
75 | S>R | No |
ClinGen TOPMed |
|
CA9094733 rs746789026 |
76 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746789026 CA403426549 |
76 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1334936086 CA403426551 |
76 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA9094736 rs747653444 |
78 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1255492937 CA403426583 |
79 | E>Q | No |
ClinGen gnomAD |
|
CA9094739 rs762615924 |
81 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA304494018 rs953987519 |
81 | Q>K | No |
ClinGen Ensembl |
|
CA403426777 rs1340385438 |
82 | N>I | No |
ClinGen gnomAD |
|
rs761225638 CA9094765 |
82 | N>K | No |
ClinGen ExAC gnomAD |
|
CA403426797 rs35484545 |
83 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9094767 rs149694101 |
88 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1486655771 CA403426886 |
89 | R>P | No |
ClinGen TOPMed gnomAD |
|
rs1486655771 CA403426890 |
89 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA9094769 rs145440493 |
89 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs929498681 CA304494866 |
90 | A>T | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 92 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9094775 rs777581184 |
92 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1162453617 CA403426978 |
94 | S>A | No |
ClinGen gnomAD |
|
rs1455546642 CA403426989 |
95 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1405598717 CA403427041 |
97 | L>R | No |
ClinGen TOPMed |
|
rs1398306216 CA403427069 |
100 | T>A | No |
ClinGen gnomAD |
|
rs745564160 CA9094779 |
100 | T>I | No |
ClinGen ExAC gnomAD |
|
rs200771550 CA304494908 |
102 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs200771550 CA9094780 |
102 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA403427115 rs1461810903 |
103 | Q>P | No |
ClinGen TOPMed |
|
rs1228058949 CA403427124 |
104 | T>A | No |
ClinGen gnomAD |
|
rs1373932578 CA403427131 |
104 | T>S | No |
ClinGen TOPMed |
|
rs1599533403 CA403427177 |
107 | A>G | No |
ClinGen Ensembl |
|
CA403427195 rs1226498652 |
108 | M>I | No |
ClinGen TOPMed gnomAD |
|
CA403427183 CA403427178 rs1311033602 |
108 | M>L | No |
ClinGen TOPMed gnomAD |
|
rs775931258 CA9094781 |
109 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs536740542 CA9094783 |
111 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9094784 rs777076572 |
114 | P>T | No |
ClinGen ExAC gnomAD |
|
rs1212458362 CA403427317 |
115 | Q>R | No |
ClinGen gnomAD |
|
rs957032809 CA403428124 |
116 | A>D | No |
ClinGen TOPMed |
|
CA403428122 rs1568379003 |
116 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs957032809 CA304496958 |
116 | A>V | No |
ClinGen TOPMed |
|
rs770366923 CA9094804 |
118 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1414043282 CA403428138 |
119 | Q>K | No |
ClinGen gnomAD |
|
TCGA novel | 120 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1291660717 CA403428188 |
124 | V>M | No |
ClinGen TOPMed |
|
rs776233464 CA9094829 |
126 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA9094828 rs767810155 |
126 | M>V | No |
ClinGen ExAC gnomAD |
|
CA9094830 rs145281893 |
127 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA9094831 rs371390445 |
127 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs771659397 CA403428212 |
128 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9094832 rs771659397 |
128 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1360599399 CA403428220 |
129 | A>V | No |
ClinGen gnomAD |
|
rs543807342 CA304497197 |
131 | R>Q | No |
ClinGen gnomAD |
|
CA9094836 rs754522407 |
136 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9094837 rs780907933 |
136 | A>V | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
TCGA novel | 138 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9094839 rs756565561 |
138 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9094841 CA403428291 rs778217458 |
140 | D>E | No |
ClinGen ExAC gnomAD |
|
CA403428294 rs1486958659 |
141 | N>Y | No |
ClinGen gnomAD |
|
CA403428304 rs1234591688 |
142 | M>T | No |
ClinGen TOPMed |
|
CA403428319 rs1307398370 |
144 | H>Y | No |
ClinGen gnomAD |
|
CA403428339 rs1337050819 |
146 | M>I | No |
ClinGen TOPMed |
|
CA304497231 rs766976177 CA403428341 |
147 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
TCGA novel | 148 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs369302746 CA9094844 |
150 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9094845 rs200331149 |
150 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA403428370 rs1295841563 |
151 | Q>L | No |
ClinGen gnomAD |
|
CA304497268 rs375518070 |
152 | E>G | No |
ClinGen ESP TOPMed |
|
CA9094848 COSM212040 rs369691691 |
153 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA9094847 rs141559654 |
153 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA9094849 rs769765150 |
154 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA9094853 rs750973778 |
160 | K>M | No |
ClinGen ExAC gnomAD |
|
rs1240970655 CA403428424 |
160 | K>Q | No |
ClinGen TOPMed gnomAD |
|
rs374375166 CA9094854 |
163 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1239467593 CA403428452 |
164 | V>L | No |
ClinGen gnomAD |
|
rs940483157 CA304498387 |
165 | P>S | No |
ClinGen TOPMed |
|
rs781619574 CA9094890 |
166 | S>G | No |
ClinGen ExAC gnomAD |
|
COSM3378762 CA9094892 rs763813323 |
167 | A>T | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA403428608 rs1279457468 |
167 | A>V | No |
ClinGen gnomAD |
|
TCGA novel | 168 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs774130281 CA9094893 |
168 | P>T | No |
ClinGen ExAC gnomAD |
|
CA9094895 rs771934110 |
169 | V>M | No |
ClinGen ExAC gnomAD |
|
CA9094898 rs763733889 |
171 | D>A | No |
ClinGen ExAC gnomAD |
|
rs760189878 CA9094897 |
171 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA403428723 rs1194297235 |
178 | A>S | No |
ClinGen gnomAD |
|
CA9094900 rs762144186 |
178 | A>V | No |
ClinGen ExAC gnomAD |
|
rs765588543 CA9094902 |
182 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1305229916 CA403428782 |
183 | T>N | No |
ClinGen TOPMed gnomAD |
|
rs758878355 CA9094904 |
185 | V>A | No |
ClinGen ExAC gnomAD |
|
rs766812292 CA9094905 |
186 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9094906 rs142307969 |
187 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
rs545061368 CA9094907 |
187 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA9094908 rs781531917 |
188 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748425183 CA9094910 |
189 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9094909 rs748425183 |
189 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs893307833 CA304498539 |
190 | D>H | No |
ClinGen TOPMed gnomAD |
|
rs893307833 CA403428842 |
190 | D>Y | No |
ClinGen TOPMed gnomAD |
|
CA9094912 rs745655176 |
191 | E>A | No |
ClinGen ExAC gnomAD |
|
rs371172774 CA304498550 |
191 | E>D | No |
ClinGen ESP TOPMed |
|
TCGA novel | 191 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs377698035 CA304498566 |
192 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771985733 CA9094913 |
192 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9094914 rs377698035 |
192 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs904886538 CA304498608 |
193 | S>R | No |
ClinGen Ensembl |
|
CA9094915 rs373678270 |
196 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA403428882 rs1488967606 |
196 | D>Y | No |
ClinGen gnomAD |
|
rs1003192870 CA304498621 |
197 | H>R | No |
ClinGen TOPMed gnomAD |
|
rs199532115 CA9094916 |
198 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199532115 CA304498623 |
198 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1414231164 COSM439680 CA403428902 |
199 | V>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs773570628 CA304498662 |
201 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773570628 CA9094920 |
201 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1298919110 CA403428929 |
203 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1421541017 CA403428927 |
203 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs752149632 CA403428933 |
204 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752149632 CA403428934 |
204 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752149632 CA9094923 COSM1393211 |
204 | R>Q | salivary_gland large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs367820799 CA9094921 |
204 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs759662733 CA9094924 |
207 | F>C | No |
ClinGen ExAC gnomAD |
|
rs371650125 CA9094927 |
208 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 208 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs752854838 CA9094926 |
208 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA403428965 rs1355445198 |
209 | G>D | No |
ClinGen gnomAD |
|
CA9094929 rs45575337 |
210 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9094928 rs777869339 |
210 | P>S | No |
ClinGen ExAC gnomAD |
|
CA403428977 rs1246666593 |
211 | P>L | No |
ClinGen TOPMed |
|
rs1212142403 CA403428974 |
211 | P>S | No |
ClinGen gnomAD |
|
CA304498732 rs376221601 |
212 | R>C | Variant assessed as Somatic; 4.787e-05 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
rs746900909 CA9094932 |
212 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1269446410 CA403428983 |
213 | L>V | No |
ClinGen TOPMed |
|
rs1162654443 CA403428993 |
214 | K>M | No |
ClinGen gnomAD |
|
CA403428996 rs1599536304 |
215 | E>K | No |
ClinGen Ensembl |
|
rs1207758397 CA403429009 CA403429010 |
216 | D>E | No |
ClinGen TOPMed |
|
rs768611736 CA9094934 |
216 | D>G | No |
ClinGen ExAC gnomAD |
|
CA9094935 rs372436661 |
217 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 217 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1159272414 CA403429020 |
218 | P>S | No |
ClinGen gnomAD |
|
rs769476755 CA9094937 |
219 | W>C | No |
ClinGen ExAC gnomAD |
|
rs747629351 CA9094936 |
219 | W>G | No |
ClinGen ExAC gnomAD |
|
CA403429044 rs1599536329 |
221 | V>G | No |
ClinGen Ensembl |
|
CA304498747 rs961982251 |
221 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1393600479 CA403429052 |
223 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA403429053 rs1393600479 |
223 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs763343056 CA9094939 |
224 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1366089854 CA403429068 |
225 | I>N | No |
ClinGen TOPMed |
|
rs140484251 CA9094941 |
226 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9094940 rs138693742 |
226 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9094942 rs760076432 |
227 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs201618674 CA304498768 |
229 | E>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs35139245 CA9094944 VAR_038385 |
232 | L>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1247350239 CA403411334 |
236 | K>R | No |
ClinGen gnomAD |
|
TCGA novel | 238 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9094959 rs201282091 |
238 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs889719785 CA403411396 CA304459440 |
239 | M>I | No |
ClinGen TOPMed |
|
CA403411375 rs1568381088 |
239 | M>V | No |
ClinGen Ensembl |
|
rs933034327 CA304459445 |
242 | M>I | No |
ClinGen TOPMed gnomAD |
|
rs759990460 CA9094960 |
242 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9094962 rs775926694 |
242 | M>R | No |
ClinGen ExAC gnomAD |
|
rs759990460 CA9094961 |
242 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9094963 rs760787936 |
243 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9094965 rs138471666 |
245 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
rs765462502 CA9094967 |
245 | R>H | No |
ClinGen ExAC gnomAD |
|
CA9094966 rs138471666 |
245 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
CA403411519 rs142344050 |
246 | V>A | No |
ClinGen TOPMed |
|
COSM109055 CA304459452 rs142344050 |
246 | V>G | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA403411532 rs1277179127 |
248 | A>T | No |
ClinGen TOPMed |
|
COSM712637 rs751344796 CA9094968 |
249 | C>Y | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA403411617 rs1289847050 |
253 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA9094969 rs754838513 |
254 | A>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 256 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9094970 rs767414804 |
257 | F>L | No |
ClinGen ExAC gnomAD |
|
CA304459457 rs889054088 |
257 | F>L | No |
ClinGen TOPMed |
|
rs1373251136 CA403411706 |
259 | E>G | No |
ClinGen TOPMed |
|
rs1336153843 CA403411694 |
259 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA304459462 rs766063741 |
260 | P>L | No |
ClinGen TOPMed |
|
rs777105230 CA403411759 |
264 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs777105230 CA9094973 |
264 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748832233 CA9094974 |
266 | P>L | No |
ClinGen ExAC gnomAD |
|
rs144315014 | 267 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA403411896 rs1473357211 |
268 | F>L | No |
ClinGen TOPMed |
|
rs745470689 CA9094996 |
269 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1380368426 CA403411941 |
271 | R>C | No |
ClinGen TOPMed gnomAD |
|
COSM1207601 CA304459722 rs189542513 |
271 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA9094997 rs189542513 |
271 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs867142811 CA304459728 |
274 | A>V | No |
ClinGen Ensembl |
|
rs1292162682 CA403412064 |
275 | S>T | No |
ClinGen gnomAD |
|
CA403412103 rs1404295957 |
277 | S>C | No |
ClinGen gnomAD |
|
rs1414784311 CA403412108 |
278 | H>Y | No |
ClinGen gnomAD |
|
CA9094999 rs747414361 |
279 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403412164 rs1311823800 |
282 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA9095002 rs777263812 |
282 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1228512899 CA403412212 |
285 | D>V | No |
ClinGen TOPMed |
|
CA403412254 COSM1325300 rs1434011951 |
288 | V>M | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
CA9095006 rs771186500 |
289 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1328977409 CA403412293 |
290 | W>R | No |
ClinGen gnomAD |
|
rs376149637 CA403412331 |
291 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 291 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs760574679 CA9095008 |
292 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760574679 CA403412338 |
292 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9095009 rs763931891 |
293 | M>V | No |
ClinGen ExAC gnomAD |
|
rs369265705 CA9095011 |
295 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM997480 rs1438490434 CA403412406 |
296 | K>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
rs764801761 CA9095012 |
297 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1387264849 CA403412444 |
298 | Q>R | No |
ClinGen TOPMed |
|
rs758068920 CA9095014 |
300 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749958049 CA9095013 |
300 | I>V | No |
ClinGen ExAC gnomAD |
|
COSM342898 CA9095015 rs779815364 |
303 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs937890368 CA304459764 |
303 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs141187177 CA9095017 |
304 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA9095018 rs150751084 |
307 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs748601764 CA9095019 |
307 | G>V | No |
ClinGen ExAC gnomAD |
|
rs111498394 COSM1680526 CA304459777 |
308 | K>E | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs1333279548 CA403412663 |
309 | G>R | No |
ClinGen gnomAD |
|
rs777760593 CA9095021 |
310 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9095020 rs770312605 |
310 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs139108551 CA9095022 |
311 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs888718985 CA304459794 |
312 | A>P | No |
ClinGen gnomAD |
|
rs1469478051 CA403412729 |
312 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1599540884 CA403412734 |
313 | S>A | No |
ClinGen Ensembl |
|
CA403412740 rs1297693493 |
314 | P>A | No |
ClinGen TOPMed |
|
CA403413338 rs1489234966 |
321 | G>D | No |
ClinGen gnomAD |
|
rs756552563 CA9095040 |
321 | G>R | No |
ClinGen ExAC gnomAD |
|
CA304459966 rs867183423 |
322 | T>A | No |
ClinGen Ensembl |
|
rs1260763948 CA403413347 |
323 | P>A | No |
ClinGen gnomAD |
|
rs1242840070 CA403413422 |
329 | P>L | No |
ClinGen TOPMed |
|
rs1426558933 CA403413417 |
329 | P>S | No |
ClinGen gnomAD |
|
rs778307267 CA304459971 |
330 | S>* | No |
ClinGen ExAC gnomAD |
|
CA9095041 COSM459947 rs778307267 |
330 | S>L | cervix [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA9095042 rs749364630 |
332 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs373140133 CA9095044 |
333 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
CA9095043 rs771080365 |
333 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs991859124 COSM1750852 CA304459985 |
335 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA9095045 rs376322971 |
335 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs772189489 CA9095046 |
337 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs776511823 CA9095047 COSM1393219 |
337 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA9095048 rs748015968 |
340 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769851306 CA9095049 |
340 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773324581 CA9095050 |
343 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs554540689 CA9095051 |
344 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1178944503 CA403414623 |
349 | T>M | No |
ClinGen gnomAD |
|
rs1302146772 CA403414633 |
350 | L>V | No |
ClinGen TOPMed |
|
CA403414692 rs1044214861 |
351 | I>M | No |
ClinGen TOPMed gnomAD |
|
CA403414718 rs767149220 |
352 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759023466 CA9095074 |
352 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs182090774 CA403414730 |
353 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9095077 rs761003361 |
353 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9095076 rs182090774 |
353 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA304461597 rs1029701698 |
354 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs573182650 CA304461601 |
355 | E>D | No |
ClinGen 1000Genomes |
|
TCGA novel | 355 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs754185016 CA9095079 |
356 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9095081 rs765722428 |
359 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA9095083 rs758593665 |
360 | V>A | No |
ClinGen ExAC gnomAD |
|
rs144527122 CA9095082 |
360 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9095084 rs539005775 |
361 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1232364286 CA403414990 |
361 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs145547298 CA403415008 |
362 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1440598118 CA403415005 |
362 | Y>C | No |
ClinGen gnomAD |
|
rs1440598118 CA403415006 |
362 | Y>F | No |
ClinGen gnomAD |
|
rs1479738701 CA403414997 |
362 | Y>H | No |
ClinGen gnomAD |
|
CA9095087 rs148882494 |
363 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs148882494 CA304461629 COSM1393229 |
363 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs148882494 CA9095086 |
363 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9095089 rs558999778 |
364 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA403415044 rs558999778 |
364 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9095088 rs558999778 |
364 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs745349961 CA9095091 |
368 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403415130 rs867424541 |
370 | G>A | No |
ClinGen gnomAD |
|
rs867424541 CA304461658 |
370 | G>D | No |
ClinGen gnomAD |
|
CA403415122 rs1352226823 |
370 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs762344071 CA9095097 |
371 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1279877532 CA403415158 COSM3404302 |
372 | G>S | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
rs766530976 CA9095101 |
373 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs893064222 CA304461677 |
376 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs751698287 CA403415239 |
377 | S>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 377 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA403415245 rs1223903995 |
377 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs751698287 CA9095102 |
377 | S>R | No |
ClinGen ExAC gnomAD |
|
CA304461681 rs914661813 |
382 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA403415297 rs914661813 |
382 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs755189864 CA9095103 |
384 | L>R | No |
ClinGen ExAC gnomAD |
|
CA403415348 rs1265788109 |
386 | K>N | No |
ClinGen gnomAD |
|
rs370463498 CA9095104 |
388 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
CA9095105 rs753659338 |
389 | A>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 394 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs778886532 CA304461695 |
395 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778886532 CA9095107 COSM1207602 |
395 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA9095109 rs772027664 |
397 | N>Y | No |
ClinGen ExAC gnomAD |
|
CA403415517 rs1429833086 |
400 | Q>R | No |
ClinGen gnomAD |
|
CA403415534 rs1599544229 |
401 | V>G | No |
ClinGen Ensembl |
|
CA9095111 rs746580293 |
402 | S>T | No |
ClinGen ExAC gnomAD |
|
rs768350624 CA9095112 |
403 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770007894 CA9095115 COSM291132 |
408 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
TCGA novel | 408 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs140631506 CA9095116 |
409 | N>K | No |
ClinGen ESP ExAC |
|
rs1313203954 CA403415623 |
409 | N>S | No |
ClinGen TOPMed |
|
rs1220864730 CA403415631 |
410 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA9095117 rs763491624 |
413 | V>L | No |
ClinGen ExAC gnomAD |
|
CA9095120 rs759753782 |
415 | D>G | No |
ClinGen ExAC gnomAD |
|
rs368026425 CA304461732 |
416 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
rs1160363606 CA403415672 |
417 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs1315973843 CA403415680 |
418 | V>G | No |
ClinGen gnomAD |
|
CA9095124 rs200879429 |
418 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA403415686 rs1476509238 |
419 | P>L | No |
ClinGen TOPMed |
|
rs1029732884 CA304461743 |
420 | D>E | No |
ClinGen TOPMed |
|
rs1454776561 CA403415687 |
420 | D>N | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 421 | C>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 422 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs954253820 CA304461746 |
423 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA403415722 rs1211456304 |
425 | H>R | No |
ClinGen TOPMed |
|
rs780033085 CA9095127 |
426 | C>Y | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 428 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9095128 rs746492451 |
429 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA403415774 rs1204862497 |
430 | Q>R | No |
ClinGen gnomAD |
|
rs1468420671 CA403415830 |
431 | G>D | No |
ClinGen gnomAD |
|
CA403415848 rs1397266367 |
432 | L>P | No |
ClinGen TOPMed gnomAD |
|
CA403415859 rs1250487208 |
433 | L>V | No |
ClinGen TOPMed |
|
rs746323027 CA9095157 |
435 | F>V | No |
ClinGen ExAC gnomAD |
|
CA9095158 rs772639106 |
437 | N>D | No |
ClinGen ExAC |
|
rs775374693 CA9095159 |
438 | A>V | No |
ClinGen ExAC |
|
rs373115179 CA9095160 |
439 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9095161 rs200289353 |
439 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1283023394 CA403415959 |
440 | T>P | No |
ClinGen gnomAD |
|
rs762043518 CA9095164 |
441 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762043518 CA9095163 |
441 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 442 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs751357114 CA9095165 |
442 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA304461871 rs374849278 |
445 | H>Q | No |
ClinGen ESP TOPMed |
|
rs1338118456 CA403416064 |
446 | T>I | No |
ClinGen gnomAD |
|
rs754810488 CA9095166 |
448 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1407251943 CA403416097 |
450 | R>G | No |
ClinGen TOPMed |
|
TCGA novel | 451 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1266505367 CA403416118 |
452 | T>I | No |
ClinGen gnomAD |
|
CA403416132 rs1167689086 |
453 | Q>H | No |
ClinGen TOPMed |
|
CA403416128 rs1568383276 |
453 | Q>R | No |
ClinGen Ensembl |
|
TCGA novel | 457 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA403416205 rs1171259499 |
458 | A>S | No |
ClinGen TOPMed |
|
CA9095169 rs375153495 |
460 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs780303964 CA9095197 |
461 | V>L | No |
ClinGen ExAC gnomAD |
|
rs1160558353 CA403416424 |
465 | S>R | No |
ClinGen TOPMed gnomAD |
|
rs972502868 CA304461937 |
466 | F>L | No |
ClinGen gnomAD |
|
rs747507912 CA9095198 |
467 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA403416506 rs1206471417 |
468 | V>M | No |
ClinGen gnomAD |
|
rs138218709 CA9095199 |
469 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA403416709 rs1224238105 |
479 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs889496647 CA304461945 |
479 | R>H | No |
ClinGen gnomAD |
|
rs759232762 CA9095204 |
484 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771854680 CA403416876 |
484 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771854680 CA9095205 |
484 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 485 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9095206 rs775182024 |
487 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403416982 rs1235802389 |
489 | S>G | No |
ClinGen gnomAD |
|
CA9095207 rs760625894 |
490 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1178260404 CA403417035 |
491 | S>Y | No |
ClinGen gnomAD |
|
CA403417085 rs1471793487 |
493 | T>I | No |
ClinGen gnomAD |
No associated diseases with Q9BTV5
2 regional properties for Q9BTV5
Type | Name | Position | InterPro Accession |
---|---|---|---|
repeat | Leucine-rich repeat | 89 - 110 | IPR001611-1 |
repeat | Leucine-rich repeat | 114 - 135 | IPR001611-2 |
Functions
5 GO annotations of cellular component
Name | Definition |
---|---|
centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
cleavage furrow | The cleavage furrow is a plasma membrane invagination at the cell division site. The cleavage furrow begins as a shallow groove and eventually deepens to divide the cytoplasm. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
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. |
2 GO annotations of molecular function
Name | Definition |
---|---|
identical protein binding | Binding to an identical protein or proteins. |
microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
6 GO annotations of biological process
Name | Definition |
---|---|
cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
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. |
cytoplasmic microtubule organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures formed of microtubules and associated proteins in the cytoplasm of a cell. |
regulation of cell division | Any process that modulates the frequency, rate or extent of the physical partitioning and separation of a cell into daughter cells. |
regulation of cytokinesis | Any process that modulates the frequency, rate or extent of the division of the cytoplasm of a cell and its separation into two daughter cells. |
regulation of mitotic spindle organization | Any process that modulates the rate, frequency or extent of the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle. |
46 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q5E9G4 | TRIM10 | Tripartite motif-containing protein 10 | Bos taurus (Bovine) | PR |
Q2T9Z0 | TRIM17 | E3 ubiquitin-protein ligase TRIM17 | Bos taurus (Bovine) | PR |
E1BJS7 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Bos taurus (Bovine) | PR |
Q7YRV4 | TRIM21 | E3 ubiquitin-protein ligase TRIM21 | Bos taurus (Bovine) | PR |
Q1PRL4 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Gallus gallus (Chicken) | PR |
Q7YR32 | TRIM10 | Tripartite motif-containing protein 10 | Pan troglodytes (Chimpanzee) | PR |
O15553 | MEFV | Pyrin | Homo sapiens (Human) | SS |
Q9H2S5 | RNF39 | RING finger protein 39 | Homo sapiens (Human) | PR |
P19474 | TRIM21 | E3 ubiquitin-protein ligase TRIM21 | Homo sapiens (Human) | PR |
P29590 | PML | Protein PML | Homo sapiens (Human) | PR |
Q9C029 | TRIM7 | E3 ubiquitin-protein ligase TRIM7 | Homo sapiens (Human) | PR |
Q86UV6 | TRIM74 | Tripartite motif-containing protein 74 | Homo sapiens (Human) | PR |
Q9UPQ4 | TRIM35 | E3 ubiquitin-protein ligase TRIM35 | Homo sapiens (Human) | PR |
Q6ZMU5 | TRIM72 | Tripartite motif-containing protein 72 | Homo sapiens (Human) | PR |
Q86UV7 | TRIM73 | Tripartite motif-containing protein 73 | Homo sapiens (Human) | PR |
Q8N9V2 | TRIML1 | Probable E3 ubiquitin-protein ligase TRIML1 | Homo sapiens (Human) | PR |
Q86XT4 | TRIM50 | E3 ubiquitin-protein ligase TRIM50 | Homo sapiens (Human) | PR |
Q5EBN2 | TRIM61 | Putative tripartite motif-containing protein 61 | Homo sapiens (Human) | PR |
Q9BZY9 | TRIM31 | E3 ubiquitin-protein ligase TRIM31 | Homo sapiens (Human) | PR |
Q2Q1W2 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Homo sapiens (Human) | PR |
Q9BXM9 | FSD1L | FSD1-like protein | Homo sapiens (Human) | PR |
Q9NQ86 | TRIM36 | E3 ubiquitin-protein ligase TRIM36 | Homo sapiens (Human) | PR |
Q9UJV3 | MID2 | Probable E3 ubiquitin-protein ligase MID2 | Homo sapiens (Human) | PR |
Q9WUH5 | Trim10 | Tripartite motif-containing protein 10 | Mus musculus (Mouse) | PR |
Q8BZT2 | Sh3rf2 | E3 ubiquitin-protein ligase SH3RF2 | Mus musculus (Mouse) | PR |
Q7TPM3 | Trim17 | E3 ubiquitin-protein ligase TRIM17 | Mus musculus (Mouse) | PR |
Q1XH17 | Trim72 | Tripartite motif-containing protein 72 | Mus musculus (Mouse) | PR |
Q60953 | Pml | Protein PML | Mus musculus (Mouse) | PR |
Q9JJ26 | Mefv | Pyrin | Mus musculus (Mouse) | SS |
Q99PQ1 | Trim12a | Tripartite motif-containing protein 12A | Mus musculus (Mouse) | PR |
Q61510 | Trim25 | E3 ubiquitin/ISG15 ligase TRIM25 | Mus musculus (Mouse) | PR |
Q810I2 | Trim50 | E3 ubiquitin-protein ligase TRIM50 | Mus musculus (Mouse) | PR |
Q1PSW8 | Trim71 | E3 ubiquitin-protein ligase TRIM71 | Mus musculus (Mouse) | PR |
Q3TL54 | Trim43a | Tripartite motif-containing protein 43A | Mus musculus (Mouse) | PR |
P86449 | Trim43c | Tripartite motif-containing protein 43C | Mus musculus (Mouse) | PR |
O77666 | TRIM26 | Tripartite motif-containing protein 26 | Sus scrofa (Pig) | PR |
O19085 | TRIM10 | Tripartite motif-containing protein 10 | Sus scrofa (Pig) | PR |
Q865W2 | TRIM50 | E3 ubiquitin-protein ligase TRIM50 | Sus scrofa (Pig) | PR |
Q920M2 | Rnf39 | RING finger protein 39 | Rattus norvegicus (Rat) | PR |
Q9JJ25 | Mefv | Pyrin | Rattus norvegicus (Rat) | SS |
A0JPQ4 | Trim72 | Tripartite motif-containing protein 72 | Rattus norvegicus (Rat) | PR |
Q810I1 | Trim50 | E3 ubiquitin-protein ligase TRIM50 | Rattus norvegicus (Rat) | PR |
D3ZVM4 | Trim71 | E3 ubiquitin-protein ligase TRIM71 | Rattus norvegicus (Rat) | PR |
F6QEU4 | trim71 | E3 ubiquitin-protein ligase TRIM71 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
Q640S6 | trim72 | Tripartite motif-containing protein 72 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
E7FAM5 | trim71 | E3 ubiquitin-protein ligase TRIM71 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MEEQREALRK | IIKTLAVKNE | EIQSFIYSLK | QMLLNVEANS | AKVQEDLEAE | FQSLFSLLEE |
70 | 80 | 90 | 100 | 110 | 120 |
LKEGMLMKIK | QDRASRTYEL | QNQLAACTRA | LESSEELLET | ANQTLQAMDS | EDFPQAAKQI |
130 | 140 | 150 | 160 | 170 | 180 |
KDGVTMAPAF | RLSLKAKVSD | NMSHLMVDFA | QERQMLQALK | FLPVPSAPVI | DLAESLVADN |
190 | 200 | 210 | 220 | 230 | 240 |
CVTLVWRMPD | EDSKIDHYVL | EYRRTNFEGP | PRLKEDQPWM | VIEGIRQTEY | TLTGLKFDMK |
250 | 260 | 270 | 280 | 290 | 300 |
YMNFRVKACN | KAVAGEFSEP | VTLETPAFMF | RLDASTSHQN | LRVDDLSVEW | DAMGGKVQDI |
310 | 320 | 330 | 340 | 350 | 360 |
KAREKDGKGR | TASPINSPAR | GTPSPKRMPS | GRGGRDRFTA | ESYTVLGDTL | IDGGEHYWEV |
370 | 380 | 390 | 400 | 410 | 420 |
RYEPDSKAFG | VGVAYRSLGR | FEQLGKTAAS | WCLHVNNWLQ | VSFTAKHANK | VKVLDAPVPD |
430 | 440 | 450 | 460 | 470 | 480 |
CLGVHCDFHQ | GLLSFYNART | KQVLHTFKTR | FTQPLLPAFT | VWCGSFQVTT | GLQVPSAVRC |
490 | |||||
LQKRGSATSS | SNTSLT |