Q96GN5
Gene name |
CDCA7L (HR1, JPO2, R1) |
Protein name |
Cell division cycle-associated 7-like protein |
Names |
Protein JPO2, Transcription factor RAM2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55536 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q96GN5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5YI9 | NMR | - | A | 56-91 | PDB |
| 6EMO | NMR | - | A | 1-32 | PDB |
| AF-Q96GN5-F1 | Predicted | AlphaFoldDB |
452 variants for Q96GN5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA366962554 rs1409482952 |
4 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA366962551 rs1409482952 |
4 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4184147 rs746210469 |
5 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781561939 CA4184146 |
5 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs771431727 CA4184145 |
6 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747480102 CA4184144 |
6 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4184143 rs777855441 |
7 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1472190727 CA366962517 |
8 | Q>* | No |
ClinGen TOPMed |
|
|
CA366961252 rs1370610908 |
10 | P>S | No |
ClinGen TOPMed |
|
|
CA366961243 rs1230005482 |
11 | K>E | No |
ClinGen gnomAD |
|
|
rs772671986 CA4184123 |
12 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1296380723 CA366961215 |
13 | V>L | No |
ClinGen gnomAD |
|
|
CA4184122 rs748214238 |
14 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1345517473 CA366961161 |
18 | N>S | No |
ClinGen gnomAD |
|
|
rs749525504 CA4184119 COSM1450000 |
19 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4184117 rs756998843 |
22 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs899524730 CA155133132 |
22 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA366961109 rs1431671844 |
23 | D>N | No |
ClinGen gnomAD |
|
|
CA366961096 rs1360762453 |
24 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1054194530 CA155133128 |
24 | E>D | No |
ClinGen gnomAD |
|
|
CA366961083 rs1192727640 |
25 | E>A | No |
ClinGen gnomAD |
|
|
CA366961076 rs1434048979 |
26 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 27 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366961029 rs1276420267 |
30 | R>* | No |
ClinGen TOPMed |
|
|
CA366961026 rs1269833920 |
30 | R>Q | No |
ClinGen gnomAD |
|
|
rs751412582 CA4184116 |
31 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1337324374 CA366961008 |
32 | D>N | No |
ClinGen TOPMed |
|
|
CA155133126 rs750872071 |
32 | D>V | No |
ClinGen Ensembl |
|
|
CA4184114 rs144827468 |
34 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 35 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764733775 CA366960981 |
35 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs764733775 CA4184111 |
35 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs752165445 CA4184112 |
35 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA4184110 rs759134896 |
36 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs776257349 CA4184109 |
37 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs766117501 CA4184108 |
38 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366960964 rs766117501 |
38 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760913603 CA4184107 |
39 | S>A | No |
ClinGen ExAC |
|
|
CA4184106 rs768051788 |
39 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366960951 rs1407981551 |
40 | S>L | No |
ClinGen gnomAD |
|
|
rs1368782024 CA366960940 |
42 | E>* | No |
ClinGen gnomAD |
|
|
rs370547386 CA155133005 |
42 | E>D | No |
ClinGen ESP TOPMed |
|
|
CA4184103 rs367734480 |
43 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200312608 CA4184102 |
43 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1379611223 CA366960927 |
44 | C>G | No |
ClinGen gnomAD |
|
|
rs140187169 CA4184099 |
45 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA155132950 VAR_083475 rs937337760 |
45 | D>N | No |
ClinGen UniProt TOPMed dbSNP |
|
|
CA366960911 rs746734289 |
46 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4184098 rs746734289 |
46 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4184097 rs777657303 |
50 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA366960876 rs1200553972 |
51 | E>D | No |
ClinGen gnomAD |
|
|
rs752647964 CA4184095 |
53 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA366960834 rs1322916643 |
56 | Q>K | No |
ClinGen gnomAD |
|
|
CA4184073 rs779644053 |
57 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562624859 CA366960823 |
57 | D>V | No |
ClinGen Ensembl |
|
|
CA366960826 rs779644053 |
57 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4184072 rs146108005 |
59 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776664746 CA4184071 |
59 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4184070 rs767335629 |
61 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200336698 CA4184069 |
62 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764648693 CA4184067 |
63 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs764648693 CA4184068 |
63 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 67 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775368336 CA4184065 |
68 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA366960752 rs1446192361 |
68 | E>G | No |
ClinGen gnomAD |
|
|
rs551496318 CA4184066 |
68 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4184064 rs769933500 |
73 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA366960707 rs1337631936 |
75 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 76 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759596331 CA4184063 |
76 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA366960689 rs776912112 |
77 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4184062 rs776912112 |
77 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA4184061 rs747912377 |
78 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA4184059 rs778699445 |
78 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4184060 rs747912377 |
78 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA4184058 rs768537964 |
80 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11554264 CA155128920 |
80 | E>Q | No |
ClinGen Ensembl |
|
|
rs749251554 CA4184057 |
83 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755636513 CA4184054 |
90 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA155128908 rs996618842 |
92 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 94 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4184053 rs749967676 |
95 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA366960564 rs1413500993 |
96 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 97 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4184051 rs777560167 |
98 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1391535076 CA366960552 |
98 | P>S | No |
ClinGen gnomAD |
|
|
CA4184050 rs751934843 |
99 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1200754339 CA366960539 |
100 | V>A | No |
ClinGen gnomAD |
|
|
CA4184049 rs764560607 |
100 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs764560607 CA366960541 |
100 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4184047 rs753237975 |
101 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177529152 CA366960533 |
101 | M>T | No |
ClinGen TOPMed |
|
|
rs1481060878 CA366960536 |
101 | M>V | No |
ClinGen TOPMed |
|
|
rs201577034 CA4184017 |
102 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4184014 rs370049835 |
103 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4184013 rs370049835 |
103 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 104 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1229485030 CA366960464 |
109 | D>E | No |
ClinGen gnomAD |
|
|
rs1246702633 CA366960463 |
110 | D>N | No |
ClinGen TOPMed |
|
|
rs745803542 CA4184011 |
111 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745803542 CA366960451 |
111 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1583845890 CA366960446 |
112 | K>R | No |
ClinGen Ensembl |
|
|
CA366960442 rs1440789438 |
113 | A>T | No |
ClinGen gnomAD |
|
|
CA366960425 rs1359283401 |
115 | L>F | No |
ClinGen gnomAD |
|
|
CA366960427 rs1230853831 |
115 | L>S | No |
ClinGen gnomAD |
|
|
CA366960422 rs1335761865 |
116 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA366960423 rs1335761865 |
116 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4184009 rs142981617 |
118 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366960395 rs746581280 |
119 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366960391 rs1257002911 |
120 | E>A | No |
ClinGen TOPMed |
|
|
CA4184006 rs558132059 |
120 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs369568135 CA4184007 |
120 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4184005 rs137919998 |
122 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150333184 CA4184004 |
123 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4184002 rs1554295801 |
126 | D>E | No |
ClinGen Ensembl |
|
|
rs755449955 CA4184000 |
127 | K>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 127 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376335429 CA4183999 |
129 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366960327 rs376335429 |
129 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750543368 CA4183997 |
130 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750543368 CA4183996 |
130 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1583845753 CA366960312 |
132 | R>G | No |
ClinGen Ensembl |
|
|
rs767757196 CA4183995 |
132 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs761972880 CA4183994 |
134 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs752469383 CA366960270 |
135 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA4183993 rs752469383 |
135 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA366960262 rs1449937921 |
136 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs972761529 CA155126949 |
136 | R>T | No |
ClinGen Ensembl |
|
|
rs759460317 CA4183991 |
137 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs761733292 | 137 | R>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4183988 rs776702624 |
139 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs200891942 CA4183987 |
140 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs987310773 CA366960195 |
141 | G>R | No |
ClinGen gnomAD |
|
|
rs987310773 CA155126935 |
141 | G>S | No |
ClinGen gnomAD |
|
|
CA4183986 rs371638574 |
142 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 142 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366960173 rs1240634203 |
143 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4183985 rs141140287 |
143 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA366960164 rs1442959759 |
144 | V>I | No |
ClinGen gnomAD |
|
|
rs1345658094 CA366960125 COSM1755212 |
147 | Q>* | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA155126924 rs909753364 |
147 | Q>R | No |
ClinGen TOPMed |
|
|
rs779282166 CA4183982 |
148 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA155126919 rs983978413 |
148 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs768997741 CA4183981 COSM1088472 |
150 | T>A | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs367949098 CA155126911 |
150 | T>I | No |
ClinGen 1000Genomes ESP gnomAD |
|
|
rs1215614532 CA366960056 |
152 | K>T | No |
ClinGen gnomAD |
|
|
CA4183980 rs749722138 |
153 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291340195 CA366960030 |
154 | A>V | No |
ClinGen gnomAD |
|
|
CA4183979 rs780509440 |
155 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs148205645 CA4183978 |
155 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA366960000 rs750462397 |
157 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366959995 rs1436905850 |
157 | P>R | No |
ClinGen gnomAD |
|
|
CA4183977 rs750462397 |
157 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4183976 rs781136077 |
158 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA4183975 rs143179934 |
159 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1207686990 CA366959964 |
160 | N>H | No |
ClinGen gnomAD |
|
|
rs1437040046 CA366959959 |
160 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 161 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759370631 CA4183972 |
164 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4183970 rs142227347 |
166 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760730241 CA4183969 |
167 | F>L | No |
ClinGen ExAC |
|
|
rs771498809 CA4183965 |
168 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA4183963 rs773872806 |
170 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4183962 rs374550676 |
171 | R>C | Variant assessed as Somatic; 9.275e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM600619 CA4183961 rs201734057 |
171 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA366959820 rs374550676 |
171 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366959790 rs1562622649 |
173 | Q>R | No |
ClinGen Ensembl |
|
|
rs1583845471 CA366959768 |
175 | E>K | No |
ClinGen Ensembl |
|
|
rs528806227 CA4183960 |
177 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366959712 rs1358091441 |
179 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs760707123 CA155126861 |
179 | I>T | No |
ClinGen Ensembl |
|
|
rs1358091441 CA366959714 |
179 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM279752 rs770218756 CA4183959 |
180 | L>I | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA155126856 rs1031964759 |
181 | E>Q | No |
ClinGen Ensembl |
|
|
CA4183958 rs746374294 |
182 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA366959676 rs1301925219 |
182 | R>T | No |
ClinGen TOPMed |
|
|
rs1294527705 CA366959672 |
183 | K>Q | No |
ClinGen gnomAD |
|
|
rs781750531 CA366959660 |
184 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781750531 CA4183957 |
184 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4183954 rs757277115 |
187 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs35281045 CA155126842 VAR_050776 |
187 | R>S | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA4183953 rs747150378 |
187 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs778114786 CA366959636 |
188 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778114786 CA4183952 |
188 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs904686660 CA155126837 |
188 | Q>H | No |
ClinGen TOPMed |
|
|
CA366959617 rs1364964545 |
191 | Q>K | No |
ClinGen gnomAD |
|
|
CA4183951 rs758712356 |
192 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1463675694 CA366959600 |
193 | E>A | No |
ClinGen gnomAD |
|
|
rs146976111 CA366959590 |
194 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4183949 rs560042862 |
194 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201363125 CA155126826 |
195 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201363125 CA4183947 |
195 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201363125 CA366959586 |
195 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1046584240 CA155126821 |
196 | T>A | No |
ClinGen TOPMed |
|
|
CA366959581 rs1370696949 |
196 | T>I | No |
ClinGen gnomAD |
|
|
rs1490331497 CA366959574 |
198 | E>* | No |
ClinGen gnomAD |
|
|
CA366959559 rs1193503419 |
200 | E>K | No |
ClinGen TOPMed |
|
|
rs761198537 CA4183945 |
201 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761198537 CA366959548 |
201 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4183944 rs371377746 |
202 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200919907 CA4183943 |
203 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs200919907 CA366959534 |
203 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs563675406 CA366959533 |
204 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4183941 rs775772395 |
204 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366959532 rs775772395 |
204 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs563675406 CA4183942 |
204 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1333079098 CA366959525 |
205 | D>V | No |
ClinGen TOPMed |
|
|
rs1281141176 CA366959518 |
206 | E>G | No |
ClinGen gnomAD |
|
|
CA366959522 rs1313733569 |
206 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1289023037 CA366959486 |
210 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA366959487 rs1289023037 |
210 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746309699 CA4183939 |
211 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767651522 CA366959443 |
215 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs767651522 CA155126790 |
215 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1408673340 CA366959418 |
217 | R>K | No |
ClinGen gnomAD |
|
|
CA366959406 rs1209896700 |
218 | T>S | No |
ClinGen Ensembl |
|
|
rs758630757 CA4183934 |
219 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4183935 rs778026662 |
219 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA366959360 rs1184659291 |
221 | I>M | No |
ClinGen gnomAD |
|
|
CA366959351 rs1052204522 |
222 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs755859959 CA4183931 |
224 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750275136 CA4183930 |
225 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1583845151 CA366959289 |
227 | M>I | No |
ClinGen Ensembl |
|
|
rs188087480 CA4183894 |
230 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369952841 CA4183892 |
233 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs867714547 CA155126094 |
233 | A>S | No |
ClinGen Ensembl |
|
|
rs369952841 COSM746438 CA4183891 |
233 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA366959135 rs1407369563 |
234 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1464271553 CA366959145 |
234 | E>K | No |
ClinGen TOPMed |
|
|
CA366959119 rs1302003238 |
236 | N>D | No |
ClinGen gnomAD |
|
|
CA155126078 rs976023639 |
236 | N>K | No |
ClinGen Ensembl |
|
|
rs770755131 CA4183890 |
237 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA366959060 rs1474948765 |
241 | F>I | No |
ClinGen gnomAD |
|
|
CA4183888 rs201701551 |
242 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM243587 rs200458641 CA4183886 |
244 | V>A | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA366959029 rs1489841906 |
244 | V>I | No |
ClinGen gnomAD |
|
|
COSM159878 CA366959018 rs1221878454 |
245 | R>* | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs771556634 CA155126048 |
245 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771556634 CA4183885 |
245 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754532598 CA4183884 |
247 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366959003 rs754532598 |
247 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567337409 CA4183883 |
248 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366958992 rs1339132951 |
248 | T>I | No |
ClinGen gnomAD |
|
|
CA366958977 rs1255662567 |
250 | A>P | No |
ClinGen TOPMed |
|
|
rs141349806 CA4183882 |
250 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4183881 rs540748332 |
251 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs745529677 CA4183842 |
254 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242922051 CA366958871 |
255 | T>I | No |
ClinGen gnomAD |
|
|
CA4183841 rs560390424 |
256 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366958867 rs1319308700 |
256 | V>L | No |
ClinGen gnomAD |
|
|
CA155125865 COSM338028 rs922366893 |
258 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA4183840 rs757664469 COSM1088470 |
258 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA366958835 rs1583842976 |
259 | A>G | No |
ClinGen Ensembl |
|
|
CA366958840 rs145238615 |
259 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4183839 rs145238615 |
259 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA155125861 rs898050182 |
260 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA366958817 rs763552835 |
261 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4183837 COSM1698405 rs763552835 |
261 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs764612197 CA4183838 |
261 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1432782295 CA366958790 |
264 | Q>E | No |
ClinGen gnomAD |
|
|
rs759666563 CA4183835 CA4183834 |
264 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4183833 rs749671239 |
265 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377604487 CA4183832 |
266 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4183828 rs762805490 |
267 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4183829 COSM159877 rs768599738 |
267 | R>W | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA155125816 rs1045499113 |
268 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4183827 rs775082493 |
268 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA366958750 rs775082493 |
268 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1240817956 CA366958740 |
269 | M>T | No |
ClinGen gnomAD |
|
|
CA366958746 rs1213958691 |
269 | M>V | No |
ClinGen TOPMed |
|
|
CA366958726 rs1583842870 |
270 | N>T | No |
ClinGen Ensembl |
|
|
CA4183824 rs780969974 |
271 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs948414964 CA155125794 |
272 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs770728898 CA366958703 |
272 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4183823 rs770728898 |
272 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139249411 CA4183822 |
273 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1295990655 CA366958696 |
274 | S>G | No |
ClinGen gnomAD |
|
|
rs1216067523 CA366958694 |
274 | S>N | No |
ClinGen gnomAD |
|
|
rs1583842817 CA366958690 |
274 | S>R | No |
ClinGen Ensembl |
|
|
rs778002499 COSM1449998 CA4183821 |
275 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1366267269 CA366958683 |
276 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4183818 rs779466315 |
276 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1337148711 CA366958674 |
278 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA366958672 rs1337148711 |
278 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA155125767 rs1054503511 |
284 | E>G | No |
ClinGen TOPMed |
|
|
rs372997607 CA4183816 |
284 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA366958627 rs1354316523 |
285 | N>H | No |
ClinGen gnomAD |
|
|
CA366958621 rs924511731 CA155125759 |
285 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA366958623 rs1282404958 |
285 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA366958624 rs1282404958 |
285 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4183814 rs760840017 |
286 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA366958607 rs1291042776 |
288 | V>I | No |
ClinGen TOPMed |
|
|
rs762865786 CA4183811 |
290 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366958591 rs762865786 |
290 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4183808 rs375745418 |
291 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4183807 rs776311696 |
291 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 291 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1583842663 CA366958583 |
292 | K>T | No |
ClinGen Ensembl |
|
|
CA366958575 rs770546760 |
293 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224029346 CA366958576 |
293 | F>V | No |
ClinGen gnomAD |
|
|
CA4183805 rs770546760 |
293 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746650414 CA4183804 |
294 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777536863 CA4183803 |
294 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1235471317 CA366958565 |
295 | E>K | No |
ClinGen TOPMed |
|
|
rs905028335 CA155125680 |
296 | E>G | No |
ClinGen Ensembl |
|
|
CA4183801 rs748589038 |
296 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs140167617 CA4183800 |
298 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369531494 CA4183798 |
301 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780113859 CA4183797 |
301 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250616458 CA366958503 |
304 | K>* | No |
ClinGen gnomAD |
|
|
CA4183795 rs750600045 |
304 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs767849344 CA4183794 |
305 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA366958497 rs767849344 |
305 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758104439 CA366958490 |
306 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758104439 CA4183793 |
306 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 307 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1583841781 CA366958449 |
310 | C>* | No |
ClinGen Ensembl |
|
|
COSM1088468 rs371749596 CA4183766 |
311 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4183767 rs772804561 |
311 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4183765 rs761462775 |
312 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4183763 rs768995761 |
315 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768995761 CA366958422 |
315 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs949363780 CA155125095 |
315 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs775830609 CA4183761 |
316 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4183762 rs775830609 |
316 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4183760 rs770354618 |
316 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA366958417 rs770354618 |
316 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA4183759 rs745894405 |
317 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs368758057 CA4183758 |
318 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4183757 COSM485196 rs146158399 |
318 | R>H | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs368758057 CA366958408 |
318 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142943530 CA366958405 |
319 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs142943530 CA4183756 |
319 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA155125027 rs1018175819 |
320 | S>F | No |
ClinGen Ensembl |
|
|
rs1006484019 CA155125024 |
321 | S>C | No |
ClinGen Ensembl |
|
|
rs754786484 CA4183754 |
323 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs754786484 CA4183755 |
323 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA366958381 rs1157365721 |
323 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs781742118 CA155125018 |
324 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1241259754 CA366958359 |
327 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 328 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4183752 rs540501423 |
328 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4183750 rs377233838 |
330 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA155125009 rs377233838 |
330 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs189760165 CA4183749 |
331 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA155125005 rs891581588 |
331 | E>Q | No |
ClinGen Ensembl |
|
|
CA4183748 rs761371148 |
332 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1162307732 CA366958304 |
335 | N>D | No |
ClinGen gnomAD |
|
|
CA155124989 rs925547232 |
336 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA366958289 rs1454648321 |
337 | A>D | No |
ClinGen TOPMed |
|
|
CA4183747 rs751210112 |
338 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1583841581 CA366958279 |
339 | T>A | No |
ClinGen Ensembl |
|
|
CA366958274 rs1190928937 |
340 | V>I | No |
ClinGen gnomAD |
|
|
rs763777079 CA366958268 COSM1088467 |
341 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4183746 rs763777079 |
341 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770133053 CA4183743 |
344 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs775952516 CA4183744 |
344 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs760100535 CA4183742 |
345 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA366958240 rs760100535 |
345 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1381312612 CA366958224 |
347 | K>R | No |
ClinGen TOPMed |
|
|
rs1583841542 CA917961029 |
347 | K>R | No |
ClinGen Ensembl |
|
|
CA4183741 rs777058471 |
348 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs531936007 CA155123616 |
351 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs779062145 CA366958187 |
351 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 352 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148567671 CA155123609 |
352 | T>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1181499059 CA366958172 |
354 | H>Y | No |
ClinGen TOPMed |
|
|
rs745692053 CA4183713 |
357 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745692053 CA366958148 |
357 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218303057 CA366958146 |
357 | R>P | No |
ClinGen gnomAD |
|
|
rs757215983 CA4183711 |
360 | T>S | No |
ClinGen ExAC |
|
|
CA366958118 rs144495438 |
361 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777278383 CA4183708 |
361 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 362 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356964066 CA366958100 |
364 | K>T | No |
ClinGen TOPMed |
|
|
CA366958089 rs1338520760 |
366 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA366958074 rs1358467264 |
368 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA366958073 rs1358467264 |
368 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4183702 rs149281501 |
368 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1401302083 CA366958065 CA366958064 |
369 | N>K | No |
ClinGen gnomAD |
|
|
rs773371427 CA4183700 |
373 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA366958021 rs1376467091 |
376 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA155123544 rs761110991 |
376 | R>Q | No |
ClinGen TOPMed |
|
|
CA155123527 rs376408493 |
382 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 383 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4183697 rs774602757 |
383 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4183694 rs138465359 |
385 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366957957 rs1583839242 |
386 | N>S | No |
ClinGen Ensembl |
|
|
CA155123513 rs768924803 COSM1200396 |
387 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA366957949 rs1215416947 |
387 | R>H | No |
ClinGen gnomAD |
|
|
rs770795151 CA4183693 |
389 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1316759729 CA366957925 |
391 | D>Y | No |
ClinGen gnomAD |
|
|
CA155123505 rs879534504 |
392 | V>F | No |
ClinGen Ensembl |
|
|
CA366957912 rs1251576225 |
393 | R>K | No |
ClinGen TOPMed |
|
|
CA366957911 rs1251576225 |
393 | R>T | No |
ClinGen TOPMed |
|
|
CA4183692 rs187980810 |
394 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1378189271 CA366957907 |
394 | S>P | No |
ClinGen gnomAD |
|
|
rs1296475750 CA366957869 |
399 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA155118216 rs368980248 |
401 | W>S | No |
ClinGen ESP TOPMed |
|
|
CA366957837 rs1250731649 |
402 | V>A | No |
ClinGen gnomAD |
|
|
CA4183647 rs559237991 |
402 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366957840 rs559237991 |
402 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1232633977 CA366957826 |
404 | P>A | No |
ClinGen TOPMed |
|
|
CA366957821 rs1484219582 |
405 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1562618642 CA572926281 |
406 | C>* | No |
ClinGen Ensembl |
|
|
rs1322455732 CA366957814 |
406 | C>G | No |
ClinGen TOPMed |
|
|
CA366957813 rs1322455732 |
406 | C>R | No |
ClinGen TOPMed |
|
|
rs1562618639 CA366957812 |
406 | C>Y | No |
ClinGen Ensembl |
|
|
rs768050489 CA4183641 |
407 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768050489 CA4183640 |
407 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562618618 CA366957800 |
408 | G>E | No |
ClinGen Ensembl |
|
|
rs1231104619 CA366957802 |
408 | G>R | No |
ClinGen gnomAD |
|
|
rs1311697391 CA366957785 |
410 | C>Y | No |
ClinGen gnomAD |
|
|
CA366957778 rs1465264468 |
411 | N>S | No |
ClinGen gnomAD |
|
|
rs879754457 CA366957754 |
414 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs879754457 CA155118183 |
414 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA155118144 rs995765441 |
416 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs368150780 CA155118150 |
416 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA366957734 rs1331157404 |
417 | K>N | No |
ClinGen gnomAD |
|
|
rs748848014 CA4183639 |
418 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766188645 CA4183638 |
418 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs769315810 CA4183635 |
419 | D>E | No |
ClinGen ExAC |
|
|
rs1256846966 CA366957726 |
419 | D>N | No |
ClinGen gnomAD |
|
|
rs1301630062 CA366957720 COSM1088465 |
420 | G>S | Variant assessed as Somatic; 0.0 impact. endometrium prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs199585313 CA4183633 |
421 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4183632 rs757696242 |
421 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366957709 rs1379426196 |
422 | C>R | No |
ClinGen gnomAD |
|
|
rs1299767891 CA366957675 |
427 | L>F | No |
ClinGen TOPMed |
|
|
CA4183630 rs758446964 |
429 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA4183629 rs758446964 |
429 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA366957627 rs1286904628 |
434 | Y>C | No |
ClinGen gnomAD |
|
|
CA155118031 rs891183747 |
434 | Y>H | No |
ClinGen Ensembl |
|
|
rs765401220 CA4183626 |
435 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1230153504 CA366957605 |
437 | D>E | No |
ClinGen TOPMed |
|
|
rs750177138 CA4183624 |
437 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767205857 CA366957604 |
438 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767205857 CA4183623 |
438 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396026072 CA366957587 |
440 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 441 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255612164 CA366957577 |
441 | E>D | No |
ClinGen gnomAD |
|
|
rs1359449685 CA366957551 |
445 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA366957525 rs1198433095 |
447 | Q>* | No |
ClinGen gnomAD |
|
|
rs16891988 CA4183578 COSM183085 |
447 | Q>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA366957511 rs1457742607 |
449 | E>Q | No |
ClinGen gnomAD |
|
|
CA4183574 rs748642695 |
451 | V>A | No |
ClinGen ExAC |
|
|
CA4183575 rs141309943 |
451 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749434728 CA4183571 |
452 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA4183572 rs569049138 |
452 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569049138 CA4183573 |
452 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366957492 rs1562617547 |
452 | E>V | No |
ClinGen Ensembl |
|
|
rs148258753 CA4183569 |
454 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1562617522 CA917961302 |
455 | N>S | No |
ClinGen Ensembl |
No associated diseases with Q96GN5
No regional properties for Q96GN5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96GN5 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| fibrillar center | A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MELATRYQIP | KEVADIFNAP | SDDEEFVGFR | DDVPMETLSS | EESCDSFDSL | ESGKQQDVRF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HSKYFTEELR | RIFIEDTDSE | TEDFAGFTQS | DLNGKTNPEV | MVVESDLSDD | GKASLVSEEE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EDEEEDKATP | RRSRSRRSSI | GLRVAFQFPT | KKLANKPDKN | SSSEQLFSSA | RLQNEKKTIL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ERKKDCRQVI | QREDSTSESE | DDSRDESQES | SDALLKRTMN | IKENKAMLAQ | LLAELNSMPD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FFPVRTPTSA | SRKKTVRRAF | SEGQITRRMN | PTRSARPPEK | FALENFTVSA | AKFAEEFYSF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RRRKTIGGKC | REYRRRHRIS | SFRPVEDITE | EDLENVAITV | RDKIYDKVLG | NTCHQCRQKT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IDTKTVCRNQ | GCCGVRGQFC | GPCLRNRYGE | DVRSALLDPD | WVCPPCRGIC | NCSYCRKRDG |
| 430 | 440 | 450 | |||
| RCATGILIHL | AKFYGYDNVK | EYLESLQKEL | VEDN |