Q96LJ8
Gene name |
UBXN10 |
Protein name |
UBX domain-containing protein 10 |
Names |
UBX domain-containing protein 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:127733 |
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 Q96LJ8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96LJ8-F1 | Predicted | AlphaFoldDB |
230 variants for Q96LJ8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs369575965 CA658936 |
9 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1320413327 CA338820845 |
9 | I>V | No |
ClinGen TOPMed |
|
|
rs755577762 CA658937 |
10 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1483567733 CA338820862 |
10 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs767761825 CA338820877 |
12 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA658938 rs767761825 |
12 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234208735 CA338820889 |
13 | E>Q | No |
ClinGen gnomAD |
|
|
rs373905958 CA658939 |
14 | C>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA658940 rs756872871 |
15 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA18914078 rs962807625 |
17 | V>I | No |
ClinGen TOPMed |
|
|
CA18914082 rs995176341 |
18 | V>I | No |
ClinGen TOPMed |
|
|
rs778558498 CA658941 |
19 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA658942 rs199525085 |
21 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338820984 rs199525085 |
21 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA658943 rs757906905 |
22 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA338821011 rs1569949939 |
24 | S>G | No |
ClinGen Ensembl |
|
|
rs1430109009 CA338821016 |
24 | S>I | No |
ClinGen gnomAD |
|
|
rs746903879 CA658945 |
24 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA658946 rs768685550 |
25 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA658949 rs377536705 |
28 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338821067 rs1226890743 |
28 | Q>H | No |
ClinGen gnomAD |
|
|
CA658950 rs773586084 |
30 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343346979 CA338821083 |
30 | N>I | No |
ClinGen gnomAD |
|
|
rs963595668 CA18914137 |
33 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 33 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1231023159 CA338821121 |
34 | M>L | No |
ClinGen gnomAD |
|
|
rs1440283910 CA338821176 |
39 | P>T | No |
ClinGen gnomAD |
|
|
CA658953 rs191933932 |
40 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs191933932 CA658954 |
40 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1186652783 CA338821205 |
41 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA658958 rs377504408 |
42 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA658957 rs377504408 |
42 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1025770083 CA18914174 |
43 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1422781454 CA338821225 |
44 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs779406109 CA658962 COSM1338220 |
45 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA658961 rs758101357 COSM463811 |
45 | R>W | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs200664821 CA658963 |
48 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200664821 CA658964 |
48 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366474875 CA338821288 |
51 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 52 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437743461 CA338821348 |
54 | Q>R | No |
ClinGen gnomAD |
|
|
rs912496162 CA18914217 |
55 | G>D | No |
ClinGen TOPMed |
|
|
CA658967 rs769718388 |
56 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 57 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs933513540 CA18914240 |
58 | V>L | No |
ClinGen gnomAD |
|
|
rs933513540 CA338821415 |
58 | V>M | No |
ClinGen gnomAD |
|
|
rs1218323166 CA338821437 |
59 | C>R | No |
ClinGen gnomAD |
|
|
COSM1338222 rs759257774 CA18914244 |
60 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA658969 rs370981958 |
61 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377199781 CA18914247 |
61 | H>Y | No |
ClinGen ESP gnomAD |
|
|
CA338821512 rs1247354352 |
62 | H>R | No |
ClinGen gnomAD |
|
|
rs1446459371 CA338821542 |
64 | P>S | No |
ClinGen TOPMed |
|
|
CA658970 rs771235590 |
65 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs138280233 CA658972 |
66 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA658975 rs201193140 |
68 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1431668839 CA338821632 |
68 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 72 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA658978 rs762559352 |
72 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18914288 rs1054550076 |
74 | L>F | No |
ClinGen TOPMed |
|
|
CA658979 rs766082670 |
76 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1398404411 CA338821906 |
79 | K>T | No |
ClinGen TOPMed |
|
|
rs1330938988 CA338821937 |
80 | P>S | No |
ClinGen gnomAD |
|
|
CA338821987 rs1569950410 |
83 | C>R | No |
ClinGen Ensembl |
|
|
rs368463029 CA658983 |
84 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338822051 rs1226170269 |
86 | K>R | No |
ClinGen gnomAD |
|
|
rs1226170269 CA338822048 |
86 | K>T | No |
ClinGen gnomAD |
|
|
rs140050242 CA658984 |
87 | S>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs113163326 CA338822074 |
88 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA18914330 rs267598328 |
88 | P>L | No |
ClinGen Ensembl |
|
|
rs113163326 CA658985 |
88 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1235735168 CA338822170 |
92 | A>V | No |
ClinGen TOPMed |
|
|
CA338822185 rs1275606658 |
94 | D>A | No |
ClinGen TOPMed |
|
|
rs756181143 CA658986 |
94 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs777690432 CA658987 |
96 | I>N | No |
ClinGen ExAC TOPMed |
|
|
rs1217609341 CA338822221 |
96 | I>V | No |
ClinGen gnomAD |
|
|
rs1045939631 CA18914352 |
98 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs771020133 CA658989 |
101 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338822287 rs1320443328 |
101 | Q>H | No |
ClinGen gnomAD |
|
|
rs771020133 CA338822280 |
101 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA658990 rs144198755 |
102 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA658991 rs745868022 |
103 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA658992 rs772188021 |
104 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18914362 rs558499361 |
104 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA338822373 rs1406330467 |
107 | A>T | No |
ClinGen gnomAD |
|
|
CA18914371 rs111829155 |
109 | S>P | No |
ClinGen Ensembl |
|
|
CA338822395 rs1305395803 |
109 | S>Y | No |
ClinGen gnomAD |
|
|
rs1407655195 CA338822416 |
111 | L>F | No |
ClinGen gnomAD |
|
|
rs1380352172 CA338822420 |
111 | L>P | No |
ClinGen TOPMed |
|
|
rs775602550 CA658994 |
112 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338822460 rs1163457137 |
114 | Y>F | No |
ClinGen TOPMed |
|
|
rs761146499 CA658995 |
115 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA658996 rs769189710 |
115 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA18914385 rs1056402681 |
117 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA18914396 rs898241966 |
119 | S>F | No |
ClinGen TOPMed |
|
|
rs1355484067 CA338822536 |
123 | K>E | No |
ClinGen gnomAD |
|
|
rs756919688 CA18914413 |
126 | E>V | No |
ClinGen gnomAD |
|
|
rs1013416901 CA18914417 |
127 | E>A | No |
ClinGen Ensembl |
|
|
rs765893798 CA658999 |
127 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs751232997 CA659000 |
128 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1252753403 CA338822607 |
128 | E>K | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759180889 CA659001 |
129 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA338822667 rs1367950707 |
131 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 131 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA659002 rs767043788 |
132 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM182719 CA659005 rs764158276 |
133 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA338822725 rs1263557142 |
135 | K>Q | No |
ClinGen TOPMed |
|
|
rs753639150 CA659006 |
136 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA659007 rs199677811 |
137 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA659008 rs778639100 |
137 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA659009 rs746088464 |
138 | S>T | No |
ClinGen ExAC TOPMed |
|
|
CA659010 rs758596691 |
139 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780073866 CA338822822 |
142 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 144 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA659013 rs769098106 |
144 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1339837214 CA338822858 |
145 | I>V | No |
ClinGen gnomAD |
|
|
rs147774058 CA659015 |
146 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA659014 rs371858310 COSM3385668 |
146 | R>W | upper_aerodigestive_tract pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA659017 rs149910776 |
147 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770195001 CA659016 |
147 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs770195001 CA338822873 |
147 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA338822881 rs149910776 |
147 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1185988581 CA338822905 |
150 | Q>P | No |
ClinGen gnomAD |
|
|
rs1185988581 CA338822907 |
150 | Q>R | No |
ClinGen gnomAD |
|
|
CA18914463 rs765029383 |
151 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs116369009 CA659020 |
152 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200733943 CA659021 |
153 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs528520138 CA659023 |
154 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757199409 CA659024 |
155 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs757199409 CA338822963 |
155 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs765057095 CA659026 |
158 | T>R | No |
ClinGen ExAC |
|
|
CA659027 rs138479642 |
159 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758602622 CA659029 |
162 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 162 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338823082 rs1434257755 |
165 | A>V | No |
ClinGen gnomAD |
|
|
CA338823086 rs1296103830 |
166 | R>* | No |
ClinGen gnomAD |
|
|
rs780274676 CA659030 |
166 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747031265 CA659031 |
167 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338823099 rs1200163556 |
168 | C>S | No |
ClinGen TOPMed |
|
|
rs200510194 CA659033 |
170 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1187611365 COSM902742 CA338823195 |
176 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA659035 rs374766447 |
177 | R>* | Variant assessed as Somatic; 0.0005087 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA659036 rs370114291 |
177 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA659037 rs370114291 |
177 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1423398534 CA338823218 |
179 | K>R | No |
ClinGen TOPMed |
|
|
CA659038 rs771804047 |
184 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771804047 CA18914513 |
184 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775297304 CA659039 |
185 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA338823290 rs1364540936 |
187 | G>* | No |
ClinGen gnomAD |
|
|
CA659042 rs763681547 |
192 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs760468964 CA659041 |
192 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA659043 rs144941949 |
193 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1301217143 CA338823333 |
194 | D>N | No |
ClinGen TOPMed |
|
|
rs765115521 COSM463812 CA659045 |
196 | E>G | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs924913879 CA18914524 |
198 | R>T | No |
ClinGen TOPMed |
|
|
rs766517673 CA659048 |
201 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1225569003 CA338823403 |
205 | S>T | No |
ClinGen gnomAD |
|
|
rs1284028298 CA338823420 |
207 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1284028298 CA338823418 |
207 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1284028298 CA338823419 |
207 | T>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 208 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338823444 rs1328540210 |
211 | F>V | No |
ClinGen gnomAD |
|
|
rs755254298 CA338823450 |
212 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA659050 rs755254298 |
212 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA659052 rs200479622 |
213 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752763316 CA659053 |
213 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752763316 CA338823458 |
213 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338823461 rs1267754509 |
214 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA659055 COSM3385670 rs778164852 |
216 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs756604609 CA659054 |
216 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338823489 rs1409189557 |
218 | T>I | No |
ClinGen gnomAD |
|
|
CA338823488 rs1409189557 |
218 | T>R | No |
ClinGen gnomAD |
|
|
CA18914542 rs141452583 |
219 | D>V | No |
ClinGen ESP |
|
|
CA338823507 rs1263027240 |
221 | L>W | No |
ClinGen TOPMed |
|
|
rs1487516298 CA338823522 |
222 | Q>R | No |
ClinGen TOPMed |
|
|
rs771428159 CA659057 |
224 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA338823812 rs1196380306 |
227 | V>A | No |
ClinGen TOPMed |
|
|
CA338823822 rs1379467310 |
229 | E>A | No |
ClinGen TOPMed |
|
|
CA659063 rs761247627 |
229 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA338823820 rs761247627 |
229 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA659066 rs769709868 |
230 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA659065 rs769709868 |
230 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA659064 rs769709868 |
230 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA659067 rs766152348 |
233 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs77427517 CA338823855 |
234 | T>A | No |
ClinGen TOPMed |
|
|
CA659068 rs201689522 |
234 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs77427517 CA18914567 |
234 | T>P | No |
ClinGen TOPMed |
|
|
CA659070 rs767665526 |
235 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs759727651 CA659069 |
235 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490204673 CA338823867 |
236 | Y>C | No |
ClinGen TOPMed |
|
|
rs142831657 CA659071 |
237 | R>* | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA338823871 rs142831657 |
237 | R>G | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA659073 rs567277729 |
237 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA659074 rs567277729 |
237 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1224274074 CA338823875 |
238 | H>Y | No |
ClinGen gnomAD |
|
|
rs778277643 CA659075 |
240 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs764671639 CA659076 |
244 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338823935 rs1177218642 |
246 | V>L | No |
ClinGen gnomAD |
|
|
CA659078 rs779389971 |
247 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1002250418 CA18914592 |
248 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs752207873 CA659079 |
248 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs147204836 CA659080 |
249 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747624382 CA659082 |
250 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA659083 rs769180595 |
250 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772839666 CA659085 |
251 | F>I | No |
ClinGen ExAC TOPMed |
|
|
rs762858485 CA659086 |
251 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 251 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770899379 CA659087 |
252 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs774096113 CA659088 |
253 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA659090 rs377207677 |
255 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA659091 rs377207677 |
255 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866059211 CA18914616 |
256 | K>R | No |
ClinGen gnomAD |
|
|
CA338824017 rs761026212 |
260 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA659092 rs761026212 |
260 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA338824024 rs1481977160 |
261 | C>F | No |
ClinGen gnomAD |
|
|
rs754009611 CA659094 |
261 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA338824042 rs1182936763 |
264 | P>S | No |
ClinGen gnomAD |
|
|
CA659096 rs11556959 |
265 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1166423957 CA338824081 |
270 | G>S | No |
ClinGen gnomAD |
|
|
rs142528987 CA659097 |
271 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs954973625 CA18914659 |
271 | I>V | No |
ClinGen gnomAD |
|
|
CA338824094 rs1357519727 |
272 | S>L | No |
ClinGen gnomAD |
|
|
rs1017730456 CA18914662 |
274 | E>K | No |
ClinGen Ensembl |
|
|
rs1385540395 CA338824128 |
277 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 277 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA18914693 rs757626931 |
278 | G>E | No |
ClinGen TOPMed |
|
|
CA338824134 rs757626931 |
278 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 278 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA659101 rs747745417 |
279 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA338824148 rs1237234451 |
280 | P>L | No |
ClinGen gnomAD |
|
|
CA338824155 rs1363056259 |
281 | P>W | No |
ClinGen gnomAD |
No associated diseases with Q96LJ8
1 regional properties for Q96LJ8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | UBX domain | 191 - 272 | IPR001012 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| ubiquitin binding | Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| ubiquitin-dependent ERAD pathway | The series of steps necessary to target endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. Begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein ubiquitination necessary for correct substrate transfer, transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q04228 | UBX2 | UBX domain-containing protein 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q12229 | UBX3 | UBX domain-containing protein 3 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q96CS3 | FAF2 | FAS-associated factor 2 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATEAPVNIA | PPECSTVVST | AVDSLIWQPN | SLNMHMIRPK | SAKGRTRPSL | QKSQGVEVCA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HHIPSPPPAI | PYELPSSQKP | GACAPKSPNQ | GASDEIPELQ | QQVPTGASSS | LNKYPVLPSI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NRKNLEEEAV | ETVAKKASSL | QLSSIRALYQ | DETGTMKTSE | EDSRARACAV | ERKFIVRTKK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QGSSRAGNLE | EPSDQEPRLL | LAVRSPTGQR | FVRHFRPTDD | LQTIVAVAEQ | KNKTSYRHCS |
| 250 | 260 | 270 | |||
| IETMEVPRRR | FSDLTKSLQE | CRIPHKSVLG | ISLEDGEGWP |