Q5VWQ0
PR
Gene name |
RSBN1 |
Protein name |
Lysine-specific demethylase 9 |
Names |
KDM9, Round spermatid basic protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54665 |
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 Q5VWQ0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5VWQ0-F1 | Predicted | AlphaFoldDB |
559 variants for Q5VWQ0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1014668 rs746446714 |
3 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746446714 CA28967838 |
3 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs910938498 CA28967833 |
4 | S>A | No |
ClinGen TOPMed |
|
|
CA1014667 rs781545890 |
5 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA28967832 rs371081081 |
6 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1014665 rs752231321 |
6 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341697923 rs752231321 |
6 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343736083 CA341697920 |
7 | R>G | No |
ClinGen gnomAD |
|
|
rs913047293 CA28967827 |
7 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1420180797 CA341697907 |
8 | T>R | No |
ClinGen gnomAD |
|
|
rs959914987 CA28967806 COSM241479 |
12 | W>C | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA1014661 rs753362463 |
13 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA341697856 rs1203833613 |
13 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs760370960 CA1014659 |
15 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs956048138 TCGA novel CA28967769 |
16 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
CA341697821 rs1249338722 |
16 | E>G | No |
ClinGen TOPMed |
|
|
rs1217742673 CA341697826 |
16 | E>K | No |
ClinGen gnomAD |
|
|
rs1485870109 CA341697814 |
17 | R>K | No |
ClinGen TOPMed |
|
|
rs1571317472 CA341697810 |
17 | R>S | No |
ClinGen Ensembl |
|
|
CA28967764 rs1033027980 |
18 | L>R | No |
ClinGen Ensembl |
|
|
rs905948860 CA28967748 |
19 | Q>* | No |
ClinGen Ensembl |
|
|
CA1014657 rs767338777 |
19 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA341697771 rs1385009775 |
20 | C>* | No |
ClinGen gnomAD |
|
|
CA1014656 rs761692170 |
20 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341697783 rs761692170 |
20 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315827887 CA341697740 |
23 | G>S | No |
ClinGen gnomAD |
|
|
rs1023091966 CA28967739 |
24 | S>R | No |
ClinGen Ensembl |
|
|
rs1381825407 CA341697709 |
25 | A>E | No |
ClinGen gnomAD |
|
|
COSM674269 CA341697695 rs1371598038 |
26 | R>Q | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs768658288 CA1014654 |
27 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1014655 rs774449517 |
27 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs774449517 CA341697693 |
27 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA341697668 rs1319217969 |
29 | L>F | No |
ClinGen TOPMed |
|
|
rs1571317396 CA341697661 |
29 | L>P | No |
ClinGen Ensembl |
|
|
CA341697652 rs1558008010 |
31 | R>G | No |
ClinGen Ensembl |
|
|
CA1014652 rs775562537 |
31 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA341697627 rs1293045410 |
33 | A>P | No |
ClinGen TOPMed |
|
|
CA341697609 rs1183688577 |
34 | D>V | No |
ClinGen gnomAD |
|
|
rs374756604 CA1014643 |
35 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1014642 rs374756604 |
35 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1014646 CA1014645 rs139244607 |
35 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1014641 rs374756604 |
35 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1014644 rs139244607 |
35 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1014637 rs751442842 |
36 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA341697592 rs751442842 |
36 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs762938060 CA1014634 |
37 | A>E | No |
ClinGen ExAC |
|
|
CA1014635 rs764216880 |
37 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1014631 rs775821508 |
38 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs769884931 CA1014630 |
40 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs199770885 CA28967576 COSM1626316 |
40 | P>S | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1410744666 CA341697537 |
42 | K>Q | No |
ClinGen TOPMed |
|
|
rs759752848 CA341697527 |
43 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs759752848 CA1014629 |
43 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs776888925 CA1014628 |
43 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA341697522 rs1401833125 |
43 | C>Y | No |
ClinGen TOPMed |
|
|
CA1014627 rs771352395 |
44 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1037337065 CA341697518 |
44 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1037337065 CA28967573 |
44 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1014626 rs747529618 |
45 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA1014625 rs778406897 |
46 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs768343986 CA1014623 |
47 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA341697481 rs1461107755 |
48 | E>K | No |
ClinGen gnomAD |
|
|
rs1370977131 CA341697456 |
49 | M>I | No |
ClinGen gnomAD |
|
|
rs779571570 CA28967551 |
51 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs779571570 CA1014621 |
51 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs748729063 CA1014622 |
51 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA341697410 rs1490810794 |
53 | V>A | No |
ClinGen gnomAD |
|
|
rs1197042172 CA341697414 |
53 | V>L | No |
ClinGen gnomAD |
|
|
CA341697407 rs1195289072 |
54 | G>R | No |
ClinGen gnomAD |
|
|
rs780979923 CA1014618 |
54 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA341697386 rs757034435 |
55 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1039319392 CA28967519 |
55 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1014617 rs757034435 |
55 | A>V | Variant assessed as Somatic; 6.22e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1350115232 CA341697365 |
56 | V>A | No |
ClinGen TOPMed |
|
|
rs942331302 CA28967513 |
56 | V>L | No |
ClinGen TOPMed |
|
|
CA341697353 rs752742729 |
57 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752742729 CA28967464 |
57 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765318679 CA1014612 |
57 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA1014613 rs752742729 COSM1667825 |
57 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1014611 rs759680398 |
58 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA341697338 rs1222595662 |
59 | V>I | No |
ClinGen TOPMed |
|
|
CA341697328 rs1328851671 |
60 | R>G | No |
ClinGen gnomAD |
|
|
rs776932341 CA28967445 |
60 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776932341 CA1014610 |
60 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328851671 CA341697325 |
60 | R>W | No |
ClinGen gnomAD |
|
|
CA341697319 rs376207062 |
61 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1014608 rs376207062 |
61 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1014607 rs376207062 |
61 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1014606 rs772730811 |
62 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs371378245 CA1014605 |
63 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341697288 rs1428228132 |
63 | A>T | No |
ClinGen gnomAD |
|
|
rs371378245 CA1014604 |
63 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 64 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745565420 CA1014602 |
65 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341697225 rs1436036786 |
66 | E>A | No |
ClinGen gnomAD |
|
|
CA1014600 rs757085452 |
67 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA341697213 rs1571316988 |
67 | E>K | No |
ClinGen Ensembl |
|
|
rs746782805 CA341697186 |
68 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1014599 rs746782805 |
68 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777494492 CA1014598 |
69 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341697184 rs1347302960 |
69 | D>N | No |
ClinGen gnomAD |
|
|
rs1205957276 CA341697128 |
72 | G>E | No |
ClinGen gnomAD |
|
|
CA1014597 rs758298601 |
72 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324648645 CA341697100 |
74 | E>V | No |
ClinGen gnomAD |
|
|
rs113435991 CA28967318 |
75 | K>E | No |
ClinGen Ensembl |
|
|
CA1014595 rs182583165 |
75 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1014593 rs138448231 |
76 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1014594 rs138448231 |
76 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341697049 rs1384887648 |
77 | H>R | No |
ClinGen TOPMed |
|
|
CA341696992 rs1571316878 |
81 | S>P | No |
ClinGen Ensembl |
|
|
rs970161708 CA28967266 |
82 | P>T | No |
ClinGen Ensembl |
|
|
rs1468513069 CA341696932 |
85 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1014587 rs372385428 |
85 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1167217365 CA341696884 |
88 | Q>R | No |
ClinGen gnomAD |
|
|
CA1014585 rs769254536 |
89 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1014586 rs769254536 |
89 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs776315071 CA1014583 |
90 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA341696833 rs1205738828 |
92 | S>C | No |
ClinGen gnomAD |
|
|
CA341696828 rs1443245621 |
92 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1203807842 CA341696793 |
94 | G>V | No |
ClinGen gnomAD |
|
|
rs1283945077 CA341696797 |
94 | G>W | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341696771 rs758153823 |
96 | S>A | No |
ClinGen ExAC |
|
|
CA1014577 rs748091071 |
96 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758153823 CA1014579 |
96 | S>T | No |
ClinGen ExAC |
|
|
CA1014576 rs778901063 |
98 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA28967188 rs1014407644 |
98 | E>K | No |
ClinGen Ensembl |
|
|
rs766529344 CA1014574 |
100 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1014573 rs766529344 |
100 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755050593 CA1014575 |
100 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756413899 CA1014572 |
101 | G>E | No |
ClinGen ExAC |
|
|
CA28967171 rs868815588 |
101 | G>W | No |
ClinGen Ensembl |
|
|
rs1159121213 CA341696694 |
104 | S>N | No |
ClinGen gnomAD |
|
|
rs1169802891 CA341696680 |
105 | Q>R | No |
ClinGen TOPMed |
|
|
rs1571316697 CA341696674 |
106 | E>K | No |
ClinGen Ensembl |
|
|
CA1014568 rs764641247 |
107 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA1014567 rs764641247 |
107 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA341696658 rs1423940474 |
107 | P>S | No |
ClinGen gnomAD |
|
|
CA1014566 rs763400009 |
108 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs763400009 CA341696650 |
108 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1191467248 CA341696636 |
110 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1191467248 CA341696634 |
110 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746676514 CA341696609 |
112 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746676514 CA1014564 |
112 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746676514 CA1014563 |
112 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1014565 rs776148202 |
112 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs772903775 CA1014562 |
113 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1408256697 CA341696592 |
114 | R>W | No |
ClinGen TOPMed |
|
|
rs1296249020 CA341696579 |
115 | R>Q | No |
ClinGen TOPMed |
|
|
rs1288927195 CA341696581 |
115 | R>W | No |
ClinGen gnomAD |
|
|
rs1026400872 CA28967113 |
117 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs771825572 CA1014561 |
118 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1014560 rs747941217 |
120 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA28967081 rs997659262 |
122 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1404211721 CA341696455 |
125 | L>P | No |
ClinGen gnomAD |
|
|
CA341696445 rs1204801662 |
126 | P>L | No |
ClinGen TOPMed |
|
|
rs768748012 CA1014558 |
127 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756254247 CA1014555 |
131 | A>S | No |
ClinGen ExAC |
|
|
rs1476529207 CA341696382 |
131 | A>V | No |
ClinGen gnomAD |
|
|
rs1037327131 CA28967064 |
132 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 132 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341696370 rs1199207911 |
133 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1014552 rs757613711 |
134 | V>G | No |
ClinGen ExAC TOPMed |
|
|
rs369673113 CA1014553 |
134 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1271763377 CA341696343 |
135 | P>L | No |
ClinGen gnomAD |
|
|
CA341696340 rs1271763377 |
135 | P>R | No |
ClinGen gnomAD |
|
|
rs1223112540 CA341696334 |
136 | G>C | No |
ClinGen gnomAD |
|
|
rs751977475 CA1014551 |
136 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1223112540 CA341696338 |
136 | G>S | No |
ClinGen gnomAD |
|
|
rs1271687590 CA341696308 |
138 | V>A | No |
ClinGen gnomAD |
|
|
rs764324734 CA1014550 |
139 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341696302 rs1212398147 |
139 | E>Q | No |
ClinGen gnomAD |
|
|
CA341696282 rs1273473272 |
140 | P>R | No |
ClinGen gnomAD |
|
|
CA1014548 rs753144627 |
141 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1014545 rs760171086 |
144 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA341696239 rs760171086 |
144 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1014546 rs765931564 |
144 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1014544 rs772775349 |
146 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA341696203 rs1326953935 |
147 | P>L | No |
ClinGen gnomAD |
|
|
rs768516727 CA1014540 |
151 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs780136153 CA1014538 |
152 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1014537 rs770034909 |
153 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1014536 rs372417546 |
154 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1014535 rs372417546 |
154 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341696126 rs1231768582 |
154 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 155 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1014534 rs757528570 |
155 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA341696108 rs1458795742 |
156 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA341696110 rs1458795742 |
156 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA28966937 rs563647718 |
156 | P>S | No |
ClinGen 1000Genomes |
|
|
CA341696094 rs1258385392 |
159 | A>P | No |
ClinGen gnomAD |
|
|
rs751663316 CA1014533 |
160 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs753266946 CA1014532 |
161 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753266946 CA1014530 |
161 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753266946 CA1014531 |
161 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28966927 rs928456062 |
162 | L>H | No |
ClinGen TOPMed |
|
|
CA1014529 rs150300706 |
162 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1277820587 CA341696067 |
163 | P>L | No |
ClinGen gnomAD |
|
|
rs749968575 CA1014527 |
163 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1014526 rs766874509 |
164 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs761543199 CA341696054 |
165 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761543199 CA1014525 |
165 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28966899 rs369967275 |
166 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369967275 CA1014524 |
166 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768643472 CA1014523 |
168 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341696008 rs1480675672 |
169 | A>S | No |
ClinGen TOPMed |
|
|
rs762812043 CA1014522 |
170 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 173 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341695933 rs1182552682 |
175 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA341695932 rs1182552682 |
175 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1254822259 CA341695920 |
176 | L>Q | No |
ClinGen gnomAD |
|
|
rs769877505 CA1014520 |
177 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1158666443 CA341695901 |
178 | V>L | No |
ClinGen TOPMed |
|
|
CA341695880 rs1389314578 |
179 | S>R | No |
ClinGen TOPMed |
|
|
rs1384720030 CA341695878 |
180 | A>T | No |
ClinGen TOPMed |
|
|
rs116046617 CA1014519 |
180 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341695868 rs1210606491 |
181 | A>T | No |
ClinGen gnomAD |
|
|
rs371162527 CA28966863 |
183 | P>R | No |
ClinGen ESP |
|
|
CA1014517 rs533417369 CA341695826 |
184 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776774979 CA1014518 |
184 | K>R | No |
ClinGen ExAC gnomAD |
|
|
COSM674271 rs747313984 CA1014516 |
185 | H>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1014515 rs564713906 |
186 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341695807 rs1405985614 |
186 | K>Q | No |
ClinGen TOPMed |
|
|
CA341695788 rs1314499812 |
187 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs201005772 CA1014514 |
188 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341695767 rs1261395998 |
189 | K>E | No |
ClinGen TOPMed |
|
|
CA28966816 rs375018588 |
189 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 190 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA28966815 rs201928606 |
190 | E>Q | No |
ClinGen 1000Genomes |
|
|
rs1303764317 CA341695735 |
191 | R>Q | No |
ClinGen gnomAD |
|
|
rs748485462 CA1014513 |
194 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1220336562 CA341695708 |
194 | H>Y | No |
ClinGen TOPMed |
|
|
rs201595767 CA1014512 |
197 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 199 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755537226 CA1014511 |
199 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1294286153 CA341695625 |
199 | G>D | No |
ClinGen TOPMed |
|
|
CA28966772 rs199843404 |
201 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1014510 rs199843404 |
201 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341695594 rs199843404 |
201 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1420819803 CA341695571 |
203 | D>A | No |
ClinGen TOPMed |
|
|
rs542480289 CA341695562 |
204 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs542480289 CA1014509 |
204 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1014508 rs531126899 |
205 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs531126899 CA28966766 |
205 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1014507 rs751265691 |
206 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1571316012 CA341695501 |
209 | T>S | No |
ClinGen Ensembl |
|
|
CA1014505 rs762647587 |
209 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA341695494 rs1164910220 |
210 | D>N | No |
ClinGen TOPMed |
|
|
rs1558007129 CA341695473 |
211 | L>F | No |
ClinGen Ensembl |
|
|
rs374464244 CA1014502 |
213 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1558007120 CA341695399 |
215 | D>E | No |
ClinGen Ensembl |
|
|
CA341695364 rs1354354993 |
217 | Q>H | No |
ClinGen gnomAD |
|
|
rs200218368 CA28966736 |
217 | Q>K | No |
ClinGen 1000Genomes |
|
|
rs1297984002 CA341695318 |
220 | G>R | No |
ClinGen TOPMed |
|
|
CA28966730 rs377132968 |
222 | R>S | No |
ClinGen ESP |
|
|
rs1313778758 CA341695253 |
223 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs776418630 CA1014500 |
223 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs142666867 CA28966719 |
224 | G>A | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 225 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1014499 rs771108896 |
226 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA341695212 rs771108896 |
226 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1014498 rs373849296 |
227 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1243923154 CA341695160 |
229 | I>T | No |
ClinGen TOPMed |
|
|
rs748327732 CA1014495 |
231 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs201515768 CA1014496 |
231 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1369710629 CA341695096 |
232 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs144657133 CA28966653 |
233 | K>E | No |
ClinGen ESP gnomAD |
|
|
rs749876738 CA1014492 |
233 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1014479 rs772070504 |
235 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1048418300 CA28960839 |
237 | P>S | No |
ClinGen Ensembl |
|
|
CA1014477 rs774555328 |
238 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA341690857 rs1346671852 |
239 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 239 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769108636 CA1014476 |
240 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA341690845 rs1479776297 |
240 | N>S | No |
ClinGen gnomAD |
|
|
CA1014475 rs749598556 |
246 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1199522278 CA341690771 |
246 | A>V | No |
ClinGen gnomAD |
|
|
CA341690769 rs1281805236 |
247 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1281805236 CA341690765 COSM894067 |
247 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA1014474 rs780417384 |
248 | D>G | No |
ClinGen ExAC |
|
|
rs1306358166 CA341690753 |
248 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA341690750 rs1306358166 |
248 | D>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 253 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390384119 CA341690673 COSM1491620 |
254 | I>K | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1014473 rs770235663 |
256 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA341690636 rs1405036020 |
257 | K>E | No |
ClinGen gnomAD |
|
|
rs746311684 CA1014472 |
258 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA341690601 rs1378196093 |
259 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs757966984 CA1014470 |
261 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs778399501 CA1014468 |
265 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1014469 rs752464285 |
265 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1391073270 CA341690513 |
266 | M>T | No |
ClinGen TOPMed |
|
|
CA1014467 rs370206746 |
266 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1014465 rs766154261 |
267 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766154261 CA1014466 |
267 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202594576 CA341690503 COSM894066 |
267 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1346323510 CA341690497 |
268 | G>R | No |
ClinGen gnomAD |
|
|
rs760608559 CA1014464 |
270 | R>C | Variant assessed as Somatic; 0.0002773 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM894065 rs750349807 CA1014463 |
270 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1014462 rs767653838 |
272 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA28960759 rs867000481 |
273 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA341690419 rs1447030853 |
274 | Y>C | No |
ClinGen gnomAD |
|
|
rs761853551 CA1014461 |
274 | Y>N | No |
ClinGen ExAC TOPMed |
|
|
CA28960750 rs762988188 |
275 | N>S | No |
ClinGen gnomAD |
|
|
rs768782398 CA1014459 |
278 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1014460 rs774608748 |
278 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs573352824 CA1014456 |
281 | V>I | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs374878697 CA1014453 |
282 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1014455 rs746434005 |
282 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA1014454 rs374878697 |
282 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1159381321 CA341690252 |
283 | A>G | No |
ClinGen gnomAD |
|
|
rs1236012770 CA341690189 |
287 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1014452 rs41283514 |
287 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778434720 CA1014451 |
288 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1014450 rs754614349 |
289 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1414898682 CA341690148 |
289 | S>N | No |
ClinGen gnomAD |
|
|
CA1014449 rs753460868 |
290 | K>R | No |
ClinGen ExAC |
|
|
CA28960731 rs985468106 |
292 | I>V | No |
ClinGen TOPMed |
|
|
rs755295294 CA28960711 |
297 | Q>E | No |
ClinGen Ensembl |
|
|
CA341689971 rs1240321341 |
297 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 298 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA28960704 rs539661851 |
299 | N>K | No |
ClinGen Ensembl |
|
|
CA341689885 rs1248682263 |
301 | T>S | No |
ClinGen TOPMed |
|
|
CA1014444 rs199667726 |
302 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA1014442 rs764168960 |
305 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA28960675 rs949027567 |
306 | K>E | No |
ClinGen Ensembl |
|
|
rs1317402601 CA341689782 |
307 | E>V | No |
ClinGen gnomAD |
|
|
rs763099752 CA1014441 |
310 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA341689733 rs1298882070 |
311 | Y>C | No |
ClinGen gnomAD |
|
|
rs760397630 CA28960638 |
311 | Y>D | No |
ClinGen Ensembl |
|
|
rs760397630 CA28960673 |
311 | Y>H | No |
ClinGen Ensembl |
|
|
rs1379584157 CA341689702 |
313 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 315 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs915566177 CA28960629 |
315 | E>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 318 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA28960611 rs992927610 COSM1639446 |
319 | R>Q | stomach [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA1014439 rs560280590 |
323 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341689500 rs759947490 |
324 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759947490 CA1014438 |
324 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341689470 rs1489553092 |
325 | Q>H | No |
ClinGen gnomAD |
|
|
CA1014436 rs181761557 |
328 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1014437 rs777326547 |
328 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450469072 CA341689360 |
330 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1450469072 CA341689363 |
330 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA341689336 rs1287169416 |
332 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA341689309 rs1234482219 |
333 | V>I | No |
ClinGen TOPMed |
|
|
rs1234482219 CA341689305 |
333 | V>L | No |
ClinGen TOPMed |
|
|
rs141121877 CA1014433 |
341 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748962265 CA1014432 |
344 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748962265 CA28960565 |
344 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341689054 rs1278700130 |
345 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs755955633 CA1014430 |
346 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA341689020 rs755955633 |
346 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1014429 rs371872764 |
346 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1325639674 CA341689011 |
347 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs780924780 CA341688942 |
351 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780924780 CA1014428 |
351 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341688937 rs1269792945 |
351 | K>T | No |
ClinGen TOPMed |
|
|
rs757191712 CA1014427 |
352 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA341688894 rs1424788454 |
353 | G>D | No |
ClinGen gnomAD |
|
|
CA341688873 rs1180857758 |
354 | T>I | No |
ClinGen TOPMed |
|
|
rs1180857758 CA341688876 |
354 | T>S | No |
ClinGen TOPMed |
|
|
rs1011948921 CA28960516 |
357 | S>G | No |
ClinGen TOPMed |
|
|
rs752900530 CA1014423 |
358 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752900530 CA1014424 |
358 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244452220 CA341688734 |
360 | I>V | No |
ClinGen gnomAD |
|
|
CA28960501 rs867328050 |
361 | H>N | No |
ClinGen Ensembl |
|
| TCGA novel | 365 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA28960490 rs1053110015 |
366 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA28960474 rs938723306 |
367 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA341688581 rs1282883775 |
369 | G>A | No |
ClinGen gnomAD |
|
|
CA1014421 rs759782591 |
370 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA341688552 rs1391032567 |
372 | V>I | No |
ClinGen TOPMed |
|
|
rs777167038 CA1014420 |
375 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1437347834 CA341688475 |
376 | Y>F | No |
ClinGen gnomAD |
|
|
rs766782608 CA1014419 |
377 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA341688433 rs1329475785 |
378 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 379 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 383 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341688339 rs1238364760 |
384 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs145853951 CA1014418 |
386 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA28960442 rs1044903172 |
387 | E>K | No |
ClinGen TOPMed |
|
|
CA341688241 rs1401416875 |
390 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 392 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341688176 rs1176224026 |
394 | E>A | No |
ClinGen gnomAD |
|
|
rs1289568852 CA341688117 |
399 | T>A | No |
ClinGen TOPMed |
|
|
CA341688077 rs1377042877 |
401 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs748809964 CA1014415 |
410 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1014414 rs774814144 |
413 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA341687856 rs1237037739 |
414 | I>K | No |
ClinGen gnomAD |
|
|
CA1014412 rs745461428 |
420 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA341687723 rs1249877655 |
424 | D>N | No |
ClinGen TOPMed |
|
|
rs1182599240 CA341687675 |
426 | L>S | No |
ClinGen TOPMed |
|
|
rs909409545 CA28960385 |
431 | F>L | No |
ClinGen TOPMed |
|
|
rs1037077413 CA28960377 |
432 | N>I | No |
ClinGen Ensembl |
|
|
CA28960379 rs897284959 |
432 | N>Y | No |
ClinGen Ensembl |
|
|
rs777732664 CA1014408 |
435 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA341687480 rs1377453905 |
436 | T>A | No |
ClinGen gnomAD |
|
|
CA1014407 rs758454157 |
437 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1421935999 CA341687395 |
440 | M>I | No |
ClinGen TOPMed |
|
|
rs1291480134 CA341687363 |
442 | I>T | No |
ClinGen Ensembl |
|
|
CA28960343 rs950976735 |
457 | H>R | No |
ClinGen TOPMed |
|
|
CA341687046 rs1166398080 |
458 | T>I | No |
ClinGen TOPMed |
|
|
CA341687043 rs1377977497 |
459 | Q>K | No |
ClinGen gnomAD |
|
|
rs910133271 CA28948782 |
461 | N>I | No |
ClinGen TOPMed |
|
|
CA1014389 rs746794218 |
463 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA341681710 rs1407774492 |
465 | C>W | No |
ClinGen TOPMed |
|
|
CA1014387 rs747968615 |
466 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747968615 CA1014386 |
466 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 469 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA28948730 rs904107323 |
472 | G>S | No |
ClinGen Ensembl |
|
|
CA1014382 rs780403681 |
482 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 492 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756243242 CA1014381 |
496 | D>E | No |
ClinGen ExAC |
|
|
CA1014380 rs750831765 |
497 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA341680735 rs1320052304 |
503 | F>L | No |
ClinGen gnomAD |
|
|
CA1014377 rs752051207 |
505 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1338914811 CA341680701 |
505 | K>R | No |
ClinGen gnomAD |
|
|
CA341680387 rs1369118178 |
511 | G>D | No |
ClinGen gnomAD |
|
|
CA1014354 rs764560309 |
512 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1270484102 CA341680374 |
512 | T>I | No |
ClinGen TOPMed |
|
|
rs1557996714 CA341680318 |
515 | S>C | No |
ClinGen Ensembl |
|
|
CA1014352 rs578037531 |
517 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA28948362 rs878896358 |
518 | L>F | No |
ClinGen Ensembl |
|
|
rs765736472 CA1014351 |
519 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341680050 rs1444397195 |
529 | I>V | No |
ClinGen TOPMed |
|
|
rs767411744 CA1014348 |
530 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs769405407 CA28948315 |
532 | V>L | No |
ClinGen Ensembl |
|
|
rs761667231 CA1014347 |
539 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA28948290 rs896758998 |
543 | D>G | No |
ClinGen Ensembl |
|
|
CA28948296 rs948276897 |
543 | D>Y | No |
ClinGen Ensembl |
|
|
CA341679767 rs1182293841 |
544 | M>V | No |
ClinGen TOPMed |
|
|
rs888625202 CA28948269 |
548 | P>A | No |
ClinGen TOPMed |
|
|
CA341679648 rs1425409627 |
550 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 552 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341679604 rs1167370828 |
553 | R>* | No |
ClinGen TOPMed |
|
|
CA1014326 rs761519603 |
555 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1014325 rs774293365 |
558 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 560 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239328328 CA341714002 |
564 | L>V | No |
ClinGen gnomAD |
|
|
rs1339595725 CA341713985 |
565 | P>L | No |
ClinGen gnomAD |
|
|
CA1014323 rs763046220 |
567 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA1014322 rs775288784 |
568 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317674268 CA341713945 |
568 | S>N | No |
ClinGen TOPMed |
|
|
rs1557993978 CA341713909 |
570 | P>A | No |
ClinGen Ensembl |
|
|
rs1297641681 CA341713893 |
571 | R>C | No |
ClinGen gnomAD |
|
|
COSM894061 rs1050379463 CA28978823 |
572 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1263176054 CA341713499 |
594 | S>G | No |
ClinGen gnomAD |
|
|
CA341713438 rs1571293238 |
597 | A>G | No |
ClinGen Ensembl |
|
|
CA341713389 rs1571293226 |
600 | V>G | No |
ClinGen Ensembl |
|
|
rs778121043 CA1014316 |
603 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA341713351 rs1205328118 |
603 | A>T | No |
ClinGen gnomAD |
|
|
COSM527690 rs1282205997 CA341713322 |
605 | Q>E | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA341713142 rs1325707654 |
609 | W>C | No |
ClinGen gnomAD |
|
|
rs1399991705 CA341713099 |
612 | Q>R | No |
ClinGen gnomAD |
|
|
rs1297485680 CA341713075 |
614 | R>C | No |
ClinGen gnomAD |
|
|
CA1014299 rs760944165 |
614 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 618 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 626 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341712843 rs1420936928 |
628 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA341712807 rs1384823845 |
630 | V>I | No |
ClinGen gnomAD |
|
|
CA341712713 rs1477376024 |
635 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA28978106 rs939866498 |
637 | D>H | No |
ClinGen TOPMed |
|
|
rs1244500390 CA341712632 |
639 | H>Q | No |
ClinGen gnomAD |
|
|
CA1014279 rs766511378 |
647 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760714822 CA1014278 |
648 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA341712366 rs1282554159 |
653 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 659 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1353087249 CA341711316 COSM300629 |
664 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs982088021 CA28977701 |
665 | Y>F | No |
ClinGen Ensembl |
|
|
rs560597251 CA28977683 |
669 | Q>E | No |
ClinGen 1000Genomes |
|
|
rs367744243 CA1014274 |
672 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341711248 rs1421246393 |
673 | N>S | No |
ClinGen TOPMed |
|
|
CA341711240 rs1446431033 |
674 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 675 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769051602 CA1014273 |
675 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156403039 CA341711157 |
686 | F>I | No |
ClinGen gnomAD |
|
|
CA1014271 rs776113007 |
689 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 692 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757987908 CA1014267 |
693 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs753813023 CA1014263 |
702 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1218174340 CA341710994 |
703 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA341710977 rs1317796700 |
704 | Y>S | No |
ClinGen gnomAD |
|
|
rs1312438978 CA341710961 |
705 | H>P | No |
ClinGen gnomAD |
|
|
rs1227029271 CA341710930 |
707 | V>A | No |
ClinGen gnomAD |
|
|
rs1571291969 CA341710916 |
708 | V>G | No |
ClinGen Ensembl |
|
|
rs766279820 CA1014262 |
709 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1014260 rs750508575 |
712 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA341710831 rs756280745 |
714 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756280745 CA1014258 |
714 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341710820 rs1455015679 |
715 | E>D | No |
ClinGen gnomAD |
|
|
rs774629446 CA1014257 |
716 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341710794 rs1163644560 |
717 | N>S | No |
ClinGen gnomAD |
|
|
CA1014256 rs764410365 |
718 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA341710759 rs1419790907 |
719 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1261095103 CA341710728 |
720 | M>T | No |
ClinGen gnomAD |
|
|
rs1477478576 CA341710740 |
720 | M>V | No |
ClinGen gnomAD |
|
|
CA28977573 rs572026739 |
723 | G>D | No |
ClinGen 1000Genomes |
|
|
CA1014255 rs139632000 |
723 | G>R | No |
ClinGen ESP ExAC |
|
|
CA1014254 rs775951282 |
725 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA1014253 rs770457454 |
726 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA341710579 rs746307326 |
727 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA1014252 rs746307326 |
727 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1292087791 CA341710561 |
728 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 729 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1337343380 CA341710409 |
734 | S>F | No |
ClinGen gnomAD |
|
|
rs1219660131 CA341710422 |
734 | S>T | No |
ClinGen gnomAD |
|
|
rs772859480 CA1014251 |
735 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs747818881 CA1014249 |
736 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA1014248 rs778596373 |
737 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1383351601 CA525629865 |
739 | I>K | No |
ClinGen gnomAD |
|
|
rs1027534938 CA28977533 |
739 | I>M | No |
ClinGen Ensembl |
|
|
rs952832309 CA28977544 |
739 | I>T | No |
ClinGen Ensembl |
|
|
CA341710221 rs1236511194 |
742 | E>Q | No |
ClinGen TOPMed |
|
|
CA28977519 rs933847215 |
743 | S>F | No |
ClinGen TOPMed |
|
|
CA341710154 rs1236406920 |
744 | E>G | No |
ClinGen gnomAD |
|
|
rs779783517 CA1014245 |
745 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149404041 CA1014244 |
747 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1465025850 CA341709973 |
751 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1014241 rs377637467 |
751 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1014240 rs757329767 |
752 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1014239 rs751781764 |
754 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA1014237 rs763229370 |
758 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA341709757 rs1571291819 |
762 | P>S | No |
ClinGen Ensembl |
|
|
CA1014234 rs760176375 |
763 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs374242811 CA1014232 |
765 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs138634440 CA1014230 |
769 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768384911 CA1014229 |
769 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1014228 rs748883651 |
770 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1253222754 CA341709583 |
771 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA341709570 rs1394083428 |
772 | Q>* | No |
ClinGen gnomAD |
|
|
CA341709550 rs1299764136 |
773 | K>* | No |
ClinGen gnomAD |
|
| TCGA novel | 773 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769573132 CA1014226 |
774 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1014225 rs745846855 |
774 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341709470 rs371030911 |
775 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1014224 rs371030911 |
775 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1455733053 CA341709364 |
780 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 784 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757097271 CA1014222 |
785 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341709236 rs757097271 |
785 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1014221 rs751693540 |
785 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1014220 rs777650613 |
786 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs758704255 CA1014219 |
787 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs925931138 CA28977433 |
788 | S>F | No |
ClinGen TOPMed |
|
|
CA1014218 rs752951127 |
790 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341709082 rs1254890550 |
790 | Q>H | No |
ClinGen gnomAD |
|
|
rs977453685 CA28977421 |
791 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1014216 rs759945462 |
795 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341708916 rs1308928167 |
796 | E>D | No |
ClinGen gnomAD |
|
|
CA1014214 rs766929418 |
796 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341708891 rs1391869912 |
797 | H>L | No |
ClinGen gnomAD |
|
|
rs1401477459 CA341708879 |
798 | S>* | No |
ClinGen gnomAD |
|
|
rs761047036 CA1014213 |
799 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436601418 CA341708832 |
799 | T>I | No |
ClinGen gnomAD |
|
|
rs768142717 CA1014211 |
800 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA28977414 rs993373221 |
800 | T>I | No |
ClinGen TOPMed |
|
|
rs3211282 CA341708763 |
801 | S>C | No |
ClinGen gnomAD |
|
|
rs3211282 CA28977381 |
801 | S>Y | No |
ClinGen gnomAD |
No associated diseases with Q5VWQ0
No regional properties for Q5VWQ0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q5VWQ0 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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 |
|---|---|
| histone H4-methyl-lysine-20 demethylase activity | Catalysis of the removal of the methyl group from a modified lysine residue at position 20 of the histone H4 protein. This is a dioxygenase reaction that is dependent on Fe(II) and 2-oxoglutarate. |
| metal ion binding | Binding to a metal ion. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| chromatin organization | The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q80T69 | Rsbn1 | Lysine-specific demethylase 9 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFISGRRTAD | KWRAEERLQC | PAGSARAALA | RCADGGAVGP | FKCVFVGEMA | AQVGAVRVVR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AVAAQEEPDK | EGKEKPHAGV | SPRGVKRQRR | SSSGGSQEKR | GRPSQEPPLA | PPHRRRRSRQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HPGPLPPTNA | APTVPGPVEP | LLLPPPPPPS | LAPAGPAVAA | PLPAPSTSAL | FTFSPLTVSA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AGPKHKGHKE | RHKHHHHRGP | DGDPSSCGTD | LKHKDKQENG | ERTGGVPLIK | APKRETPDEN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GKTQRADDFV | LKKIKKKKKK | KHREDMRGRR | LKMYNKEVQT | VCAGLTRISK | EILTQGQINS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TSGLNKESFR | YLKDEQLCRL | NLGMQEYRVP | QGVQTPFMTH | QEHSIRRNFL | KTGTKFSNFI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HEEHQSNGGA | LVLHAYMDEL | SFLSPMEMER | FSEEFLALTF | SENEKNAAYY | ALAIVHGAAA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YLPDFLDYFA | FNFPNTPVKM | EILGKKDIET | TTISNFHTQV | NRTYCCGTYR | AGPMRQISLV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GAVDEEVGDY | FPEFLDMLEE | SPFLKMTLPW | GTLSSLRLQC | RSQSDDGPIM | WVRPGEQMIP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TADMPKSPFK | RRRSMNEIKN | LQYLPRTSEP | REVLFEDRTR | AHADHVGQGF | DWQSTAAVGV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LKAVQFGEWS | DQPRITKDVI | CFHAEDFTDV | VQRLQLDLHE | PPVSQCVQWV | DEAKLNQMRR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EGIRYARIQL | CDNDIYFIPR | NVIHQFKTVS | AVCSLAWHIR | LKQYHPVVEA | TQNTESNSNM |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DCGLTGKREL | EVDSQCVRIK | TESEEACTEI | QLLTTASSSF | PPASELNLQQ | DQKTQPIPVL |
| 790 | 800 | ||||
| KVESRLDSDQ | QHNLQEHSTT | SV |