O14562
Gene name |
UBFD1 (UBPH) |
Protein name |
Ubiquitin domain-containing protein UBFD1 |
Names |
Ubiquitin-binding protein homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56061 |
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 O14562
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O14562-F1 | Predicted | AlphaFoldDB |
248 variants for O14562
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs377067442 RCV000364300 |
98 | D>C | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001119627 rs371224231 |
103 | L>P | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763318143 CA7962829 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378818501 CA395143079 |
3 | A>E | No |
ClinGen TOPMed |
|
|
CA395143081 rs1378818501 |
3 | A>G | No |
ClinGen TOPMed |
|
|
CA395143089 rs1180119461 |
4 | A>S | No |
ClinGen TOPMed |
|
|
rs765945891 CA7962830 |
5 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs765945891 CA279536014 |
5 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA279536020 rs558869338 |
6 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754682988 CA7962832 |
6 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7962833 rs558869338 |
6 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752289838 CA7962834 |
7 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1192953405 CA395143119 |
7 | P>S | No |
ClinGen gnomAD |
|
|
rs981333288 CA279536034 |
8 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 9 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7962858 rs528676585 |
10 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1338769479 CA395143250 |
11 | E>K | No |
ClinGen TOPMed |
|
|
rs750276972 CA7962859 |
12 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7962860 rs755109834 |
13 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279536205 rs1049042528 |
15 | M>I | No |
ClinGen TOPMed |
|
|
CA7962862 rs748107621 |
15 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748107621 CA395143302 |
15 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395143315 rs1325855212 |
16 | D>G | No |
ClinGen gnomAD |
|
|
rs372140981 CA7962863 |
16 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs548347758 CA7962864 |
17 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395143327 rs1205934021 |
17 | T>M | No |
ClinGen gnomAD |
|
|
CA279536212 rs1022537438 |
18 | E>K | No |
ClinGen TOPMed |
|
|
rs749771687 CA7962865 |
19 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7962866 rs749771687 |
19 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA279536218 rs889319334 |
19 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs567254290 CA7962867 |
20 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759959385 CA7962868 |
21 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA395143379 rs1277953856 |
23 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs775203980 CA7962870 |
23 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7962872 rs760303652 |
24 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA279536229 rs906935821 |
24 | T>I | No |
ClinGen TOPMed |
|
|
rs760303652 CA7962871 |
24 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs761804091 CA7962874 |
27 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs765290638 CA7962875 |
29 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA395143454 rs1285980488 |
30 | P>R | No |
ClinGen TOPMed |
|
|
rs758215165 CA7962877 |
30 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279536246 rs966157129 |
31 | V>A | No |
ClinGen TOPMed |
|
|
rs779775047 CA7962878 |
31 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA395143474 rs1269531432 |
32 | N>S | No |
ClinGen gnomAD |
|
|
rs867428273 CA279536251 |
33 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA7962879 rs752947655 |
33 | C>W | No |
ClinGen ExAC |
|
|
CA395143511 rs1398147803 |
35 | E>K | No |
ClinGen TOPMed |
|
|
rs777799222 CA7962881 |
36 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs756339293 CA7962880 |
36 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA395143568 rs1485166656 |
38 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA395143582 rs1259127758 |
40 | A>T | No |
ClinGen gnomAD |
|
|
CA279536262 rs1026349822 |
40 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 41 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779399154 CA7962884 |
42 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7962885 rs746429432 |
43 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs772473529 CA7962886 |
43 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7962887 rs775768886 |
44 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760347497 CA7962888 |
45 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395143631 rs1192118453 |
45 | E>Q | No |
ClinGen TOPMed |
|
|
rs928422516 CA279536273 |
46 | D>Y | No |
ClinGen Ensembl |
|
|
rs934458903 CA279536276 |
47 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1313751986 CA395143670 |
48 | G>C | No |
ClinGen gnomAD |
|
|
rs1597034453 CA395143686 |
49 | A>V | No |
ClinGen Ensembl |
|
|
rs776236181 CA279536279 |
50 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776236181 CA7962890 |
50 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395143690 rs1292310119 |
50 | A>V | No |
ClinGen TOPMed |
|
|
CA395143691 rs1380370143 |
51 | R>G | No |
ClinGen gnomAD |
|
|
CA395143695 rs1369938606 |
51 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs761424503 CA7962891 |
52 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs765196377 CA7962892 |
52 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256282926 CA395143713 |
53 | S>G | No |
ClinGen TOPMed |
|
|
CA395143716 rs750365384 |
53 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7962893 rs750365384 |
53 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270515801 CA395143749 |
56 | P>A | No |
ClinGen TOPMed |
|
|
CA7962897 rs756286806 |
57 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA395143769 rs756286806 |
57 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7962898 rs764322943 |
57 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1274530933 CA395143788 |
58 | P>L | No |
ClinGen gnomAD |
|
|
rs1348086343 CA395143790 |
59 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1567396056 CA395143842 |
61 | P>L | No |
ClinGen Ensembl |
|
|
rs1203828850 CA395143814 |
61 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA395143845 rs757325826 |
62 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA395143850 rs1448129041 |
62 | P>L | No |
ClinGen gnomAD |
|
|
CA7962900 rs757325826 |
62 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1191080645 CA395143854 |
63 | G>R | No |
ClinGen gnomAD |
|
|
rs779024667 CA7962901 |
65 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1251637468 CA395143898 |
65 | P>S | No |
ClinGen gnomAD |
|
|
rs758872738 CA7962903 |
66 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs780429302 CA7962904 |
66 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA395143918 rs1385427636 |
67 | A>G | No |
ClinGen gnomAD |
|
|
rs1157831180 CA395143914 |
67 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA395143928 rs1203675059 |
68 | Q>R | No |
ClinGen gnomAD |
|
|
CA7962905 rs747359775 |
69 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs768370096 CA395143953 |
70 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7962906 rs768370096 |
70 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7962907 rs368702600 |
71 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA279536335 COSM557148 rs866691217 |
71 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA395143955 rs866691217 |
71 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1314810816 CA395143966 |
72 | S>G | No |
ClinGen gnomAD |
|
|
rs1197688635 CA395143984 |
73 | N>S | No |
ClinGen gnomAD |
|
|
CA395143994 rs1049396434 |
74 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA279536358 rs1049396434 |
74 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7962909 rs769412464 |
75 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs772644233 CA7962910 |
76 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7962912 rs766257618 |
77 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7962911 rs374790923 |
77 | A>P | No |
ClinGen ESP ExAC |
|
|
CA395144038 rs766257618 |
77 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395144048 rs1468423072 |
78 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1269530917 CA395144053 |
79 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA395144052 rs1269530917 |
79 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7962914 rs371264539 |
80 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754046839 CA7962916 |
82 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs754046839 CA7962917 |
82 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA395144075 rs1162516469 |
83 | R>K | No |
ClinGen gnomAD |
|
|
CA395144078 rs1393734490 |
83 | R>S | No |
ClinGen gnomAD |
|
|
rs1162516469 CA395144076 |
83 | R>T | No |
ClinGen gnomAD |
|
|
rs1461869958 CA395144086 |
84 | E>G | No |
ClinGen gnomAD |
|
|
CA7962919 rs750502304 |
85 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395144112 rs1597034740 |
86 | V>G | No |
ClinGen Ensembl |
|
|
rs1390273114 CA395144120 |
87 | D>V | No |
ClinGen gnomAD |
|
|
CA395144184 rs1307268580 |
91 | I>V | No |
ClinGen gnomAD |
|
|
rs747314835 CA395144212 CA7962922 |
92 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1291785560 CA395144220 |
93 | N>S | No |
ClinGen gnomAD |
|
|
CA7962923 rs755386318 |
94 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1267709509 CA395144245 |
95 | T>A | No |
ClinGen gnomAD |
|
|
rs1057523044 RCV000419205 |
96 | K>I | No |
ClinVar dbSNP |
|
|
rs1048612103 CA279536405 |
96 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA279536408 rs993637963 |
97 | H>R | No |
ClinGen Ensembl |
|
|
CA395144270 rs1165413971 |
97 | H>Y | No |
ClinGen gnomAD |
|
|
CA279536410 rs895375420 |
99 | V>L | No |
ClinGen TOPMed |
|
|
rs1195241371 COSM1376799 CA395144322 |
101 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs769607029 CA7962926 |
102 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA395144335 rs747778380 |
102 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7962925 rs747778380 |
102 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs772737210 CA395144344 |
103 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279536427 rs952100953 |
104 | D>N | No |
ClinGen Ensembl |
|
|
rs375338737 CA7962928 |
105 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201108917 CA7962930 |
106 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759529278 CA7962931 |
107 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs775305983 CA7962933 |
108 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279536454 rs750914225 |
109 | E>D | No |
ClinGen Ensembl |
|
|
rs1412513625 CA395144448 |
112 | Q>E | No |
ClinGen gnomAD |
|
|
CA279536458 rs777685397 |
114 | I>V | No |
ClinGen Ensembl |
|
|
CA7962935 rs765402159 |
115 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA395144497 rs750463435 |
115 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298373782 CA395144488 |
115 | H>Y | No |
ClinGen gnomAD |
|
|
CA395144513 rs558904092 |
117 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7962937 rs558904092 |
117 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs946073798 CA279537278 |
121 | P>R | No |
ClinGen Ensembl |
|
|
rs771213010 CA7962976 |
124 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 126 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216164364 CA395145360 |
130 | K>R | No |
ClinGen gnomAD |
|
|
CA7962977 rs774522242 |
132 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA395145381 rs768069892 |
133 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7962979 rs768069892 |
133 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395145382 rs768069892 |
133 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754262095 CA7962983 |
135 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA395145410 rs1160352112 |
136 | D>N | No |
ClinGen gnomAD |
|
|
rs1391556636 CA395145464 |
141 | E>G | No |
ClinGen gnomAD |
|
|
CA395145483 rs1460316176 |
144 | V>M | No |
ClinGen gnomAD |
|
|
rs764885318 CA7962985 |
146 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA395145505 rs1350568447 |
147 | G>E | No |
ClinGen gnomAD |
|
|
rs1278018507 CA395145523 |
150 | I>V | No |
ClinGen gnomAD |
|
|
rs749871308 CA7962987 |
151 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7962988 rs757903003 |
153 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7962989 rs1555505713 |
158 | N>D | No |
ClinGen Ensembl |
|
|
CA395145599 rs1289948087 |
158 | N>S | No |
ClinGen gnomAD |
|
|
CA7962991 rs779601161 |
160 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 161 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs925934230 CA279537342 |
166 | P>A | No |
ClinGen TOPMed |
|
|
CA279537340 rs925934230 |
166 | P>T | No |
ClinGen TOPMed |
|
|
rs746893696 CA7962992 |
167 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 169 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754979954 CA7962993 |
169 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7962994 rs780806967 |
169 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA395145719 rs1232014875 |
170 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 172 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374288988 CA7962996 |
173 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7962997 rs774718282 |
174 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs772265935 CA7962999 |
175 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA395145788 rs1407209075 |
176 | A>V | No |
ClinGen gnomAD |
|
|
CA279537397 rs886862687 |
177 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 177 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1354204312 CA395145810 |
178 | E>D | No |
ClinGen gnomAD |
|
|
CA7963003 CA395145823 rs776806229 |
179 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA395145821 rs1297616195 |
179 | N>S | No |
ClinGen TOPMed |
|
|
CA395145829 rs1310037120 |
180 | K>R | No |
ClinGen gnomAD |
|
|
CA395145846 rs1232383483 |
181 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA395145851 rs1284723312 |
182 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 183 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395145879 rs1326077121 |
184 | L>P | No |
ClinGen TOPMed |
|
|
CA395145902 rs1358369978 |
186 | R>G | No |
ClinGen gnomAD |
|
|
rs1016588951 CA279537407 |
186 | R>K | No |
ClinGen Ensembl |
|
|
rs1212361566 CA395145916 |
186 | R>S | No |
ClinGen gnomAD |
|
|
rs1271648165 CA395145918 |
187 | Q>E | No |
ClinGen gnomAD |
|
|
rs753622728 CA7963049 |
198 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA7963050 rs757116479 |
200 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167187711 CA395121739 |
200 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 204 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395121775 rs944482664 |
206 | V>I | No |
ClinGen TOPMed |
|
|
CA279491775 rs944482664 |
206 | V>L | No |
ClinGen TOPMed |
|
|
rs113389014 CA279491788 |
209 | A>P | No |
ClinGen TOPMed |
|
|
rs113389014 CA279491781 |
209 | A>T | No |
ClinGen TOPMed |
|
|
rs751787413 CA7963052 |
209 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs752704984 CA7963074 |
212 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756180251 CA7963075 |
212 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs202237406 CA7963078 |
215 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7963079 rs779288226 |
215 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395122819 rs202237406 |
215 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 216 | V>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395122847 rs1197557002 |
220 | G>S | No |
ClinGen TOPMed |
|
|
CA279492165 rs986119625 |
221 | M>I | No |
ClinGen TOPMed |
|
|
CA395122863 rs1567399496 |
222 | Y>C | No |
ClinGen Ensembl |
|
|
rs1567399501 CA395122884 |
225 | S>P | No |
ClinGen Ensembl |
|
|
rs1358980540 COSM3361687 CA395122905 |
228 | K>R | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA395122954 COSM3948393 rs1306825309 |
235 | L>R | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA395123348 rs1269867746 |
247 | R>L | No |
ClinGen gnomAD |
|
|
CA395123350 rs1269867746 |
247 | R>Q | Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1228961829 CA395123347 |
247 | R>W | No |
ClinGen gnomAD |
|
|
rs780804534 CA7963102 |
252 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA395123407 rs1246994627 |
253 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 255 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395123441 rs1567401419 |
256 | I>M | No |
ClinGen Ensembl |
|
| TCGA novel | 257 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363451414 CA395123474 |
260 | V>D | No |
ClinGen TOPMed |
|
|
CA279495463 rs990358587 |
260 | V>I | No |
ClinGen TOPMed |
|
|
CA395123514 rs1410245057 |
263 | P>L | No |
ClinGen gnomAD |
|
|
rs1472448040 CA395123531 |
264 | I>M | No |
ClinGen gnomAD |
|
|
rs1567401426 CA395123525 |
264 | I>T | No |
ClinGen Ensembl |
|
|
rs1567401431 CA395123534 COSM3420865 |
265 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA395123555 rs1160562263 |
267 | H>D | No |
ClinGen gnomAD |
|
|
CA7963106 rs763006988 |
271 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1253823203 CA395123655 |
272 | M>I | No |
ClinGen TOPMed |
|
|
CA7963107 rs770692660 |
272 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395124574 rs1365385807 |
276 | Q>E | No |
ClinGen TOPMed |
|
|
rs553235584 CA7963130 |
279 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395124655 COSM1376802 rs1342432072 |
280 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA7963133 rs750544130 |
285 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA395124858 rs1238496072 |
290 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 291 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395124931 rs746048757 |
293 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7963135 rs767010643 |
296 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7963136 rs751910279 |
297 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA395125015 rs1399838134 |
298 | I>V | No |
ClinGen gnomAD |
|
|
rs1478014397 CA395125037 |
299 | K>R | No |
ClinGen TOPMed |
|
|
CA7963138 rs781664830 |
301 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs746148470 CA279497225 |
306 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 308 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with O14562
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q17361 | usp-14 | Ubiquitin carboxyl-terminal hydrolase 14 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAGAPDGM | EEPGMDTEAE | TVATEAPARP | VNCLEAEAAA | GAAAEDSGAA | RGSLQPAPAQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PPGDPAAQAS | VSNGEDAGGG | AGRELVDLKI | IWNKTKHDVK | FPLDSTGSEL | KQKIHSITGL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PPAMQKVMYK | GLVPEDKTLR | EIKVTSGAKI | MVVGSTINDV | LAVNTPKDAA | QQDAKAEENK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KEPLCRQKQH | RKVLDKGKPE | DVMPSVKGAQ | ERLPTVPLSG | MYNKSGGKVR | LTFKLEQDQL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WIGTKERTEK | LPMGSIKNVV | SEPIEGHEDY | HMMAFQLGPT | EASYYWVYWV | PTQYVDAIKD |
| TVLGKWQYF |