Q9NUD7
Gene name |
C20orf96 |
Protein name |
Uncharacterized protein C20orf96 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:140680 |
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 Q9NUD7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NUD7-F1 | Predicted | AlphaFoldDB |
363 variants for Q9NUD7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753272371 CA9721995 |
2 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 4 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1238037682 CA407889381 |
4 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1451920429 CA407889328 |
5 | L>* | No |
ClinGen gnomAD |
|
| TCGA novel | 6 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755584717 CA9721993 |
6 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220553942 CA407888156 |
8 | P>S | No |
ClinGen gnomAD |
|
|
CA407888114 rs1479851147 |
9 | K>R | No |
ClinGen TOPMed |
|
|
CA310630753 rs375975887 |
13 | T>A | No |
ClinGen Ensembl |
|
|
rs561439438 CA9721943 |
13 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA310630746 rs561439438 |
13 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9721942 rs745370755 |
16 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA407887842 rs1269018990 |
16 | I>V | No |
ClinGen gnomAD |
|
|
CA407887664 rs780910984 |
19 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9721941 rs780910984 |
19 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407887598 rs1600193146 |
20 | F>C | No |
ClinGen Ensembl |
|
|
CA407887588 rs1414518543 |
20 | F>L | No |
ClinGen gnomAD |
|
|
CA9721940 rs756843278 |
21 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407887576 rs1600193130 |
21 | Q>R | No |
ClinGen Ensembl |
|
|
rs1415201130 CA407887517 |
23 | P>L | No |
ClinGen gnomAD |
|
|
CA9721924 rs746321638 |
24 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1258081046 CA407887145 |
31 | S>P | No |
ClinGen gnomAD |
|
|
rs770528771 CA9721922 |
32 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1323145659 CA407887102 |
32 | K>T | No |
ClinGen Ensembl |
|
|
CA407887047 rs1600192795 |
34 | E>K | No |
ClinGen Ensembl |
|
|
rs1600192789 CA407887029 |
35 | T>P | No |
ClinGen Ensembl |
|
|
CA9721921 rs372566973 |
38 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9721920 rs777448744 |
39 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA407886936 rs777448744 |
39 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 42 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752522624 CA9721918 |
44 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 45 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407886814 rs1307383173 |
45 | Q>E | No |
ClinGen gnomAD |
|
|
rs754772928 CA9721916 |
46 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1401139154 CA407886769 |
47 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA310630545 rs1004241442 |
49 | L>F | No |
ClinGen TOPMed |
|
|
CA9721914 rs766326969 |
51 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1166705386 CA407886685 |
51 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA407886684 rs1166705386 |
51 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs761859654 CA9721913 |
53 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 54 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9721911 rs375746621 |
57 | L>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375746621 CA310630536 |
57 | L>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1568494805 CA407886444 |
59 | R>G | No |
ClinGen Ensembl |
|
|
rs1160535333 CA407886419 |
60 | V>I | No |
ClinGen TOPMed |
|
|
rs114292813 CA407886388 |
61 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9721909 rs201857645 |
62 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376791854 CA9721884 |
64 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376791854 CA9721885 |
64 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1296163931 CA407902508 |
67 | K>R | No |
ClinGen gnomAD |
|
|
rs1299460867 CA407902496 |
68 | P>A | No |
ClinGen TOPMed |
|
|
COSM3963435 CA407902485 COSM3963434 rs1401580993 |
69 | T>A | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA310628943 rs1012464000 |
69 | T>I | No |
ClinGen Ensembl |
|
|
COSM1130671 CA9721882 rs768337298 |
70 | T>M | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA310628941 rs959900859 |
70 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1464182102 CA407902411 |
74 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1464182102 CA407902414 |
74 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs571813775 CA9721880 |
76 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9721879 rs755918979 |
76 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs372813606 CA9721878 |
77 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9721876 rs758364042 |
78 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752858013 CA9721875 |
78 | K>T | No |
ClinGen ExAC |
|
|
rs1488834176 CA407902328 |
79 | N>K | No |
ClinGen gnomAD |
|
|
rs1003978704 CA310628923 |
79 | N>S | No |
ClinGen TOPMed |
|
|
CA407902311 rs1160397252 |
81 | R>G | No |
ClinGen TOPMed |
|
|
CA407902308 rs1414593100 |
81 | R>T | No |
ClinGen TOPMed |
|
|
CA407902298 rs1198950233 COSM1025440 |
82 | E>* | endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs779269360 CA9721874 |
82 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs754123949 CA9721872 |
83 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA9721873 rs755306700 |
83 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9721871 rs766782570 |
84 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs750846591 CA9721869 |
87 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9721870 rs371871076 |
87 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761198522 CA9721867 |
92 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9721866 rs773918581 |
93 | K>R | No |
ClinGen ExAC |
|
|
CA9721865 rs137926498 |
94 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407902087 rs762536700 |
95 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9721864 rs762536700 |
95 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265906849 CA407902033 |
97 | K>N | No |
ClinGen gnomAD |
|
|
COSM3939286 rs775131817 CA9721863 COSM3939287 |
99 | W>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9721862 rs769438414 |
100 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA407901967 rs1290030556 |
101 | M>R | No |
ClinGen TOPMed |
|
|
CA407901034 rs764779901 |
103 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA9721826 rs764779901 |
103 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
CA310627391 rs1018640095 |
104 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA407901017 rs1453249841 |
105 | L>F | No |
ClinGen gnomAD |
|
|
CA407901019 rs1453249841 |
105 | L>V | No |
ClinGen gnomAD |
|
|
CA407901002 rs1269402981 |
106 | R>M | No |
ClinGen gnomAD |
|
|
CA407900983 rs1215596249 |
107 | S>R | No |
ClinGen gnomAD |
|
|
CA9721822 rs760568622 |
108 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs766156164 CA9721824 CA9721823 |
108 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407900973 rs760568622 |
108 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA407900979 rs766156164 |
108 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310627387 rs867228077 |
109 | R>G | No |
ClinGen gnomAD |
|
|
CA310627386 rs952711137 |
110 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9721819 rs373695950 |
111 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867848473 CA310627383 |
111 | A>S | No |
ClinGen Ensembl |
|
|
rs769778652 CA9721817 |
113 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs140397500 CA9721816 |
113 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140397500 CA407900924 |
113 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407900918 rs1568491732 |
114 | E>Q | No |
ClinGen Ensembl |
|
|
rs757571940 CA9721814 |
115 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA407900891 rs1423234855 |
116 | R>* | No |
ClinGen gnomAD |
|
|
rs1174375989 CA407900887 |
116 | R>P | No |
ClinGen gnomAD |
|
|
rs532299971 CA9721812 |
117 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9721811 rs151192874 |
117 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs151192874 CA9721810 |
117 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754475212 CA9721808 |
118 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754475212 CA407900865 |
118 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs754475212 CA407900867 |
118 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA9721809 rs540093816 |
118 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA407900857 rs1463778568 |
119 | E>K | No |
ClinGen TOPMed |
|
|
CA310627361 rs568029243 |
120 | N>K | No |
ClinGen Ensembl |
|
|
CA9721804 rs760513871 |
121 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs753479250 CA9721805 |
121 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1220434810 CA407900815 |
122 | L>F | No |
ClinGen gnomAD |
|
|
rs1220434810 CA407900816 |
122 | L>V | No |
ClinGen gnomAD |
|
|
CA9721801 rs773207477 |
123 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs778816117 CA407900800 |
123 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA407900808 rs773207477 |
123 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1217286844 CA407900782 |
124 | K>N | No |
ClinGen gnomAD |
|
|
CA407900767 rs1396497640 |
125 | L>R | No |
ClinGen TOPMed |
|
|
rs1314675597 CA407900757 |
126 | N>S | No |
ClinGen TOPMed |
|
|
CA407900748 rs1413947915 |
127 | R>Q | No |
ClinGen TOPMed |
|
|
CA9721800 rs767548353 |
127 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9721799 rs761785476 |
128 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1568491669 CA407900717 |
129 | L>R | No |
ClinGen Ensembl |
|
|
CA9721795 rs370729462 |
130 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9721793 rs771185646 |
131 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs144826952 CA9721792 |
132 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA310627337 COSM1025415 rs947621657 |
133 | I>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA407900663 rs1476759803 |
134 | Q>K | No |
ClinGen gnomAD |
|
|
rs1283102450 CA407900656 |
134 | Q>R | No |
ClinGen TOPMed |
|
|
CA9721788 rs779307758 |
136 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA9721789 rs748646086 |
136 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1211753398 CA407900615 |
137 | E>* | No |
ClinGen gnomAD |
|
|
CA407900618 rs1211753398 |
137 | E>Q | No |
ClinGen gnomAD |
|
|
rs1600187245 CA407900557 |
140 | T>K | No |
ClinGen Ensembl |
|
|
CA9721785 rs779847571 |
141 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA9721784 rs199683042 |
142 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9721783 rs750115099 |
143 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs767355858 CA9721782 |
144 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs901973553 CA310627322 COSM371394 |
144 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs901973553 CA407900515 |
144 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs761734222 CA9721781 |
145 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA310627319 rs1053044162 |
145 | R>W | No |
ClinGen TOPMed |
|
|
rs751467899 CA9721780 |
148 | L>P | No |
ClinGen ExAC |
|
|
rs1298560194 CA407900466 |
149 | Q>* | No |
ClinGen TOPMed |
|
|
rs1568491617 CA407900460 |
149 | Q>L | No |
ClinGen Ensembl |
|
|
CA407900462 rs1568491617 |
149 | Q>R | No |
ClinGen Ensembl |
|
|
CA9721778 rs146587791 |
150 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759632891 CA9721777 |
151 | Q>* | No |
ClinGen ExAC |
|
|
CA310627304 rs1019174508 |
152 | D>E | No |
ClinGen Ensembl |
|
|
rs776645140 CA9721775 |
152 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176212512 CA407900414 |
153 | T>N | No |
ClinGen gnomAD |
|
|
CA407900421 rs1237094588 |
153 | T>S | No |
ClinGen gnomAD |
|
|
rs760817006 CA9721773 |
154 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 155 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407900395 rs1221409097 |
155 | A>V | No |
ClinGen gnomAD |
|
|
CA9721732 rs369933636 |
158 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777377372 CA9721733 |
158 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs200900480 CA9721730 |
159 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9721729 rs750561764 |
160 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA9721727 rs767775692 |
160 | I>S | No |
ClinGen ExAC |
|
|
rs750561764 CA9721728 |
160 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1486315111 CA407900204 |
161 | L>S | No |
ClinGen gnomAD |
|
|
CA407900193 rs1229087766 |
162 | E>* | No |
ClinGen TOPMed |
|
|
rs761874884 CA9721726 |
163 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9721725 rs774646072 |
164 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310627013 rs148500999 |
165 | N>K | No |
ClinGen ESP TOPMed |
|
|
CA9721724 rs764316427 |
165 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs763404636 CA9721721 |
166 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423692892 CA407900124 |
167 | K>E | No |
ClinGen TOPMed |
|
|
rs145711790 CA9721719 |
168 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 168 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340308451 CA407900084 |
171 | Q>* | No |
ClinGen gnomAD |
|
|
rs1301799263 CA407900048 |
176 | L>V | No |
ClinGen gnomAD |
|
|
CA9721718 rs770469688 |
177 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs745354557 CA9721717 |
178 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776343892 CA9721716 |
178 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs745354557 CA310627004 |
178 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9721715 rs770475121 |
179 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168415886 CA407899954 |
182 | K>N | No |
ClinGen TOPMed |
|
|
rs746597205 CA9721714 |
183 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA9721711 rs747988519 |
185 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA310626994 rs1019703714 |
186 | K>R | No |
ClinGen TOPMed |
|
|
rs1263758718 CA407899890 CA407899889 |
187 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA407899894 rs1462721128 |
187 | M>T | No |
ClinGen gnomAD |
|
|
CA9721684 rs777842535 |
190 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 190 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390545330 CA407899310 |
191 | E>K | No |
ClinGen gnomAD |
|
|
CA407899309 rs1390545330 |
191 | E>Q | No |
ClinGen gnomAD |
|
|
COSM3707667 CA407899300 rs1161808328 COSM1615419 |
192 | Q>* | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs758757282 CA9721683 |
193 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1386056498 CA407899282 |
194 | A>V | No |
ClinGen gnomAD |
|
|
rs1343608409 CA407899272 |
196 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1343608409 CA407899273 |
196 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs200957700 CA9721682 |
197 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1334847558 CA407899256 |
198 | N>I | No |
ClinGen TOPMed |
|
|
rs765635517 CA9721681 |
199 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760014846 CA9721680 |
200 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs112677690 CA9721679 |
201 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 202 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 202 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299482222 CA407899219 |
204 | T>P | No |
ClinGen TOPMed |
|
|
CA9721677 rs150666895 |
205 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150666895 CA310626725 |
205 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772847665 CA9721676 |
205 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA407899212 rs772847665 |
205 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA407899207 rs771576019 |
206 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9721675 rs771576019 |
206 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310626724 rs144025240 |
209 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
rs774014341 CA9721673 |
210 | F>V | No |
ClinGen ExAC |
|
|
CA407899147 rs1280778101 |
212 | S>N | No |
ClinGen gnomAD |
|
|
CA407899139 rs1313640259 |
213 | T>A | No |
ClinGen TOPMed |
|
|
rs1568490417 CA407899129 |
214 | Y>N | No |
ClinGen Ensembl |
|
|
CA9721672 rs768398625 |
214 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs562179308 CA9721670 |
215 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749120015 CA9721671 |
215 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 216 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA310626716 rs893440987 |
217 | H>N | No |
ClinGen Ensembl |
|
|
rs747052756 CA9721668 |
217 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777839051 CA9721667 |
218 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 221 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9721666 rs199526456 |
223 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA310626710 rs940892572 |
224 | V>I | No |
ClinGen TOPMed |
|
|
CA407898973 rs1485092665 |
225 | Q>H | No |
ClinGen TOPMed |
|
|
rs752932257 CA9721665 |
225 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA407898956 rs1568490388 |
226 | I>M | No |
ClinGen Ensembl |
|
|
rs1470501057 CA407898950 |
227 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA310626706 rs372622119 |
229 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs372622119 CA310626704 |
229 | L>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1490782944 CA407898915 |
230 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs147158424 CA9721663 |
231 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407898906 rs147158424 |
231 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766793783 CA9721661 |
231 | R>H | Variant assessed as Somatic; 0.0003235 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766793783 CA9721662 |
231 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285800060 CA407898886 |
232 | Q>H | No |
ClinGen gnomAD |
|
|
rs750908008 CA9721659 |
233 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368143993 CA9721658 |
238 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1281956554 CA407898786 |
240 | Q>* | No |
ClinGen gnomAD |
|
|
CA9721657 rs761344398 |
240 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs761344398 CA310626695 |
240 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1380758903 CA407898723 |
242 | D>N | No |
ClinGen gnomAD |
|
|
rs751126025 CA9721637 |
244 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA407898660 rs1470941369 |
246 | D>V | No |
ClinGen gnomAD |
|
|
rs1169602554 CA407898654 |
247 | L>V | No |
ClinGen gnomAD |
|
|
rs762597351 CA9721635 |
248 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186749529 CA407898630 |
249 | E>Q | No |
ClinGen gnomAD |
|
|
rs775014541 CA9721634 |
250 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240794364 CA407898611 |
250 | M>R | No |
ClinGen gnomAD |
|
|
CA9721633 COSM3423556 COSM3423555 rs573549117 |
251 | R>C | large_intestine Variant assessed as Somatic; 9.27e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs573549117 CA9721632 |
251 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs550866771 CA9721631 |
251 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550866771 CA9721630 |
251 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748236997 CA9721629 |
253 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 253 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407898550 rs1309635540 |
255 | L>V | No |
ClinGen gnomAD |
|
|
rs774507819 CA9721628 |
257 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9721627 rs143525888 |
259 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA407898485 rs1317297398 |
260 | D>N | No |
ClinGen gnomAD |
|
|
rs1317297398 CA407898483 |
260 | D>Y | No |
ClinGen gnomAD |
|
|
CA407898444 rs1555770295 |
262 | I>M | No |
ClinGen 1000Genomes |
|
|
CA9721625 rs373753442 |
263 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs746279889 CA9721622 |
263 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407898442 rs373753442 |
263 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA9721623 rs756469578 |
263 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA310626642 rs530605323 |
265 | K>N | No |
ClinGen gnomAD |
|
|
rs781654102 CA9721621 |
266 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 267 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs6046368 CA9721617 |
268 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA310626636 rs747835513 |
268 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9721618 rs747835513 |
268 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA407898327 rs763534240 |
269 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA407898303 rs1165044301 |
269 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 269 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757865035 CA9721615 |
269 | I>T | No |
ClinGen ExAC |
|
|
rs763534240 CA9721616 |
269 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs752350964 CA9721613 |
270 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444741822 CA407898295 |
270 | L>V | No |
ClinGen gnomAD |
|
|
CA407898251 rs1387719174 |
272 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA9721611 rs759366822 |
275 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759366822 CA9721612 |
275 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769920971 CA9721587 |
277 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9721586 rs769920971 COSM576882 |
277 | T>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA407898055 rs1568490132 |
278 | Q>P | No |
ClinGen Ensembl |
|
|
CA9721584 rs113722416 |
279 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771240781 CA9721583 |
279 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9721582 rs771240781 |
279 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9721581 rs747411459 |
281 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407898007 rs1286716053 |
282 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 283 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407897992 rs1454913634 |
283 | E>K | No |
ClinGen gnomAD |
|
|
CA407897930 rs1177906608 |
286 | L>P | No |
ClinGen TOPMed |
|
|
rs778334608 CA9721580 |
287 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs989299616 CA310626548 |
288 | K>M | No |
ClinGen Ensembl |
|
|
CA9721579 rs772525783 |
288 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9721577 rs778232002 |
289 | M>I | No |
ClinGen ExAC |
|
|
rs748695512 CA9721578 |
289 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1468637166 CA407897858 |
290 | W>R | No |
ClinGen TOPMed |
|
|
CA407897804 rs1428183690 |
293 | Q>R | No |
ClinGen gnomAD |
|
|
CA9721576 rs754559449 |
295 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9721574 rs779892545 |
297 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs767485299 CA9721571 |
299 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9721572 rs750242886 |
299 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757074568 CA9721570 |
301 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA310626532 rs1002362911 |
301 | R>S | No |
ClinGen TOPMed |
|
|
CA407897682 rs1325587181 |
302 | F>L | No |
ClinGen gnomAD |
|
|
CA9721567 rs541368648 |
304 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9721568 rs138663865 |
304 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9721542 VAR_056847 rs3827147 |
305 | I>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1301529281 CA407897553 |
305 | I>T | No |
ClinGen gnomAD |
|
|
rs3827147 CA407897555 |
305 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769346598 CA9721541 |
306 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426782151 CA407897545 |
306 | I>V | No |
ClinGen gnomAD |
|
|
CA310626328 rs745877230 |
310 | E>A | No |
ClinGen Ensembl |
|
|
rs1158046263 CA407897474 |
310 | E>D | No |
ClinGen gnomAD |
|
|
rs570488394 CA9721539 |
313 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA407897424 rs1183841698 |
313 | M>R | No |
ClinGen gnomAD |
|
|
rs1362023905 CA407897433 |
313 | M>V | No |
ClinGen gnomAD |
|
|
CA310626324 rs941900711 |
314 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1267837355 CA407897414 |
314 | P>S | No |
ClinGen gnomAD |
|
|
rs745458252 CA9721537 |
318 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9721535 COSM1025398 rs756968503 |
319 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA407897305 rs1281771125 |
322 | E>V | No |
ClinGen TOPMed |
|
|
rs746867839 CA9721534 |
323 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1371873348 CA407897288 |
323 | L>R | No |
ClinGen TOPMed |
|
|
CA407897272 rs1568489800 |
325 | A>S | No |
ClinGen Ensembl |
|
|
CA407897266 rs1281755664 |
325 | A>V | No |
ClinGen gnomAD |
|
|
CA407897250 rs1316211767 |
326 | Q>L | No |
ClinGen TOPMed |
|
|
rs367958111 CA407897226 |
328 | R>L | No |
ClinGen gnomAD |
|
|
rs367958111 CA310626313 |
328 | R>Q | No |
ClinGen gnomAD |
|
|
CA9721531 rs201883976 |
328 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399051778 CA407897224 |
329 | E>K | No |
ClinGen gnomAD |
|
|
rs756250702 CA9721529 |
330 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9721530 rs756250702 |
330 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9721528 rs202179540 |
331 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407897199 rs202179540 |
331 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407897195 rs1457701977 |
331 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1568489753 CA407897176 |
333 | V>I | No |
ClinGen Ensembl |
|
|
CA407896671 rs1196975549 |
334 | I>M | No |
ClinGen gnomAD |
|
|
CA9721527 rs754072214 |
334 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs762073039 CA9721526 |
335 | F>C | No |
ClinGen ExAC |
|
|
rs752035358 CA9721525 |
337 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs964337705 CA310626299 |
338 | V>A | No |
ClinGen TOPMed |
|
|
rs1280886882 CA407896629 |
338 | V>I | No |
ClinGen gnomAD |
|
|
rs764556586 CA9721524 |
341 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1025397 COSM3840626 rs1246943904 CA407896590 |
341 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA9721522 rs113419123 |
342 | R>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA407896561 rs1209964876 |
342 | R>S | No |
ClinGen gnomAD |
|
|
CA310626293 rs987070571 |
343 | P>L | No |
ClinGen Ensembl |
|
|
CA407895149 rs1359586554 CA407895148 |
344 | K>N | No |
ClinGen gnomAD |
|
|
CA9721501 rs758952270 |
349 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs765819879 CA407895020 |
349 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765819879 CA9721502 |
349 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9721500 rs776142813 |
352 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs140504163 CA9721499 |
353 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866315273 CA310624368 |
354 | N>K | No |
ClinGen Ensembl |
|
|
CA407894877 rs1202832925 |
354 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs946062240 CA310624367 |
356 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1275634851 CA407894773 |
358 | E>A | No |
ClinGen gnomAD |
|
|
CA407894660 rs1288348557 |
362 | P>R | No |
ClinGen TOPMed |
No associated diseases with Q9NUD7
No regional properties for Q9NUD7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9NUD7 | |||
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAHVLQKPKH | SGTHSIVQEF | QVPDYVPWQQ | SKQETKPSTL | PPVQQANSLH | TSKMKTLTRV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QPVFHFKPTT | VVTSCQPKNP | RELHRRRKLD | PGKMHAKIWL | MKTSLRSGRA | ALRELRSREN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FLSKLNRELI | ETIQEMENST | TLHVRALLQQ | QDTLATIIDI | LEYSNKKRLQ | QLKSELQEWE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EKKKCKMSYL | EQQAEQLNAK | IEKTQEEVNF | LSTYMDHEYS | IKSVQISTLM | RQLQQVKDSQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QDELDDLGEM | RRKVLESLSD | KIQKKKKKIL | SSVVAETQRP | YEEALLQKMW | ESQDFLKCMQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RFREIIDQFE | ENMPVLRAEV | EELQAQTREP | REVIFEDVLL | RRPKCTPDMD | VILNIPVEEP |
| LPF |