Q9BZI7
PR
Gene name |
UPF3B |
Protein name |
Regulator of nonsense transcripts 3B |
Names |
Nonsense mRNA reducing factor 3B, Up-frameshift suppressor 3 homolog B, hUpf3B, Up-frameshift suppressor 3 homolog on chromosome X, hUpf3p-X |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:65109 |
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
4 structures for Q9BZI7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1UW4 | X-ray | 195 A | A/C | 50-140 | PDB |
| 2XB2 | X-ray | 340 A | G/U | 424-483 | PDB |
| 7NWU | X-ray | 260 A | A/C/E/G | 49-170 | PDB |
| AF-Q9BZI7-F1 | Predicted | AlphaFoldDB |
243 variants for Q9BZI7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs201833722 RCV002064520 RCV003169123 CA10503389 |
18 | T>I | Syndromic X-linked intellectual disability 14 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001859659 RCV002348008 rs748622995 RCV000395795 CA10503390 |
18 | T>P | Syndromic X-linked intellectual disability 14 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001871772 CA10503343 RCV001311100 RCV002437065 rs770557726 |
93 | M>V | Syndromic X-linked intellectual disability 14 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs187600102 CA10503339 RCV000610273 RCV000622263 |
118 | V>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA121438 rs122468182 VAR_037666 RCV000012154 |
160 | Y>D | Syndromic X-linked intellectual disability 14 MRXS14 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1603371016 RCV000995676 |
191 | E>* | Syndromic X-linked intellectual disability 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001266967 RCV002272438 CA10503281 rs147945173 |
223 | I>V | Syndromic X-linked intellectual disability 14 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2056158006 RCV001260815 |
224 | E>D | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000494240 RCV001787090 RCV000012151 rs794727881 |
225 | R>missing | Syndromic X-linked intellectual disability 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064794254 RCV000483091 RCV000678370 |
233 | R>missing | Syndromic X-linked intellectual disability 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001174536 rs2056156815 |
240 | E>missing | Syndromic X-linked intellectual disability 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10503271 RCV002518925 RCV000626987 RCV000585524 rs754982440 |
253 | I>T | Syndromic X-linked intellectual disability 14 Cataract [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA334125062 rs985384811 RCV001331270 |
255 | R>G | Syndromic X-linked intellectual disability 14 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001516145 COSM73209 rs142862074 RCV002317402 CA10503270 |
255 | R>K | Syndromic X-linked intellectual disability 14 ovary Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1603370185 RCV000012152 |
290 | G>missing | Syndromic X-linked intellectual disability 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775715153 CA209537 RCV000194994 RCV000872743 |
321 | L>S | Syndromic X-linked intellectual disability 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001260817 rs2056119926 |
354 | R>* | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001519127 rs139646537 CA10503196 |
358 | R>C | Syndromic X-linked intellectual disability 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000502584 RCV002316451 RCV002527306 CA10503195 rs181034787 |
358 | R>H | Syndromic X-linked intellectual disability 14 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs199727706 CA10503190 RCV000990933 |
367 | K>N | Syndromic X-linked intellectual disability 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10503188 rs374676402 COSM73208 RCV001344846 RCV002431971 |
368 | R>W | Syndromic X-linked intellectual disability 14 ovary Variant assessed as Somatic; 0.0 impact. large_intestine endometrium Inborn genetic diseases [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000660377 RCV003163042 CA10503182 rs146785878 |
373 | R>H | Syndromic X-linked intellectual disability 14 Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA206124 RCV000544499 RCV000192954 RCV002315517 rs143538947 |
374 | R>H | Syndromic X-linked intellectual disability 14 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000519345 CA334123362 rs898086981 RCV002525112 |
397 | K>E | Syndromic X-linked intellectual disability 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10503168 rs775993429 RCV000705930 |
401 | R>Q | Syndromic X-linked intellectual disability 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs777574933 RCV002315425 CA414182833 |
420 | E>D | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA121436 rs122468181 COSM3843387 RCV000012153 RCV000760391 |
430 | R>* | Syndromic X-linked intellectual disability 14 Variant assessed as Somatic; impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1556377028 RCV000578335 |
451 | R>missing | Syndromic X-linked intellectual disability 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001267575 rs2056076026 |
474 | I>N | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569464167 RCV000762664 |
1 | M>missing | No |
ClinVar dbSNP |
|
|
CA10503397 rs763838107 |
2 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs762760356 CA10503396 |
6 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414186033 rs1330410963 |
6 | E>G | No |
ClinGen gnomAD |
|
|
CA10503395 rs776650878 |
7 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 8 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10503393 rs760862595 |
9 | P>L | No |
ClinGen ExAC gnomAD |
|
|
RCV000659178 rs760862595 CA414186012 |
9 | P>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 13 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414185953 rs1177094315 |
19 | P>A | No |
ClinGen gnomAD |
|
|
CA10503388 rs757733776 COSM755641 |
19 | P>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA334132271 rs757733776 |
19 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 19 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10503387 rs749670981 |
22 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 24 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs961446418 CA334132226 |
24 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 26 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334132215 rs1050045607 |
26 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs749030222 CA10503385 |
27 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA414185905 rs749030222 |
27 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 29 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218778977 CA414185887 |
30 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA414185885 rs1429129778 |
31 | G>R | No |
ClinGen TOPMed |
|
|
CA414185812 RCV000500328 rs1556384218 |
41 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA414185801 rs1312936556 |
42 | R>H | No |
ClinGen gnomAD |
|
|
rs149280875 CA10503380 |
49 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775903612 CA10503369 |
57 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1340487954 CA414185662 |
61 | T>A | No |
ClinGen gnomAD |
|
|
rs1008317163 CA334131652 |
61 | T>S | No |
ClinGen Ensembl |
|
| TCGA novel | 63 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296934126 CA414185630 |
65 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs955279373 CA334131636 |
66 | Q>R | No |
ClinGen gnomAD |
|
|
rs770098378 CA10503368 |
68 | Q>R | No |
ClinGen ExAC |
|
|
rs1603372863 CA414185603 |
69 | E>D | No |
ClinGen Ensembl |
|
|
CA414185609 rs1391978007 |
69 | E>K | No |
ClinGen gnomAD |
|
|
CA10503367 rs745494517 |
70 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA334131607 rs6646501 |
71 | L>F | No |
ClinGen Ensembl |
|
|
CA414185569 rs1456588189 |
74 | M>I | No |
ClinGen gnomAD |
|
|
CA10503366 rs780846779 |
75 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs1171504530 | 84 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334131580 rs6646500 |
84 | S>F | No |
ClinGen Ensembl |
|
|
rs1477513150 CA414185478 |
86 | D>E | No |
ClinGen gnomAD |
|
|
rs1603372849 CA414185482 |
86 | D>Y | No |
ClinGen Ensembl |
|
| rs749039837 | 87 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414185474 rs201741267 |
87 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10503365 rs201741267 |
87 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA334131568 rs12851945 |
87 | T>P | No |
ClinGen Ensembl |
|
|
CA414185468 rs746517116 |
88 | S>I | No |
ClinGen ExAC |
|
|
rs746517116 CA10503364 |
88 | S>N | No |
ClinGen ExAC |
|
|
CA414185410 rs1556383687 RCV000520578 |
95 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 101 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414185342 rs1348634001 |
104 | Q>E | No |
ClinGen TOPMed |
|
|
CA414185340 rs1220397336 |
104 | Q>R | No |
ClinGen gnomAD |
|
|
rs757875178 CA10503340 COSM1682837 |
116 | G>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs754731796 CA10503337 |
122 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs778724809 CA10503338 |
122 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA414185202 rs1398291194 |
123 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 126 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414185153 rs1266178890 |
128 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA414185152 rs1190764248 |
129 | A>T | No |
ClinGen TOPMed |
|
|
CA10503328 rs201112408 |
130 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs138652766 CA10503327 |
131 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 138 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs900263096 CA334127559 |
140 | A>E | No |
ClinGen Ensembl |
|
|
rs1472479202 CA414185036 |
145 | K>N | No |
ClinGen TOPMed |
|
|
CA10503326 rs760147057 |
146 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 148 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1365761489 CA414185007 |
149 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 151 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414184973 COSM1113938 rs1159050442 |
155 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1280623696 CA414184935 |
158 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 159 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 164 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414184883 rs1233013683 |
165 | E>A | No |
ClinGen TOPMed |
|
|
CA414184877 rs1274044031 |
166 | S>G | No |
ClinGen TOPMed |
|
|
rs1323665982 CA414184865 |
167 | Y>F | No |
ClinGen TOPMed |
|
|
rs758438433 CA10503310 |
169 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA334126641 rs1028398179 |
171 | N>S | No |
ClinGen Ensembl |
|
|
CA414184827 rs1213886632 |
173 | K>E | No |
ClinGen TOPMed |
|
|
rs1343272890 CA414184801 |
176 | S>F | No |
ClinGen gnomAD |
|
|
CA414184746 rs1478541870 |
185 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 189 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 210 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10503282 rs774086911 |
220 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 222 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs794727881 | 225 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334125164 rs1030525759 |
227 | R>S | No |
ClinGen Ensembl |
|
|
rs997907739 CA334125153 |
228 | Q>K | No |
ClinGen Ensembl |
|
|
rs1192920948 CA414184400 |
229 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 232 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000494485 rs1131691699 |
233 | R>missing | No |
ClinVar dbSNP |
|
|
rs745848634 CA10503276 |
239 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1448542824 CA414184319 |
240 | E>K | No |
ClinGen gnomAD |
|
|
rs770789655 CA10503274 |
242 | R>Q | Variant assessed as Somatic; 0.0003189 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA414184269 rs759453199 |
246 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10503272 rs779206466 |
247 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433098281 CA414184268 |
247 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 247 | I>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 254 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000087250 rs483352765 CA229204 |
258 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA334125033 rs1005629418 |
259 | R>K | No |
ClinGen TOPMed |
|
|
rs780162949 CA10503269 |
269 | K>T | No |
ClinGen ExAC |
|
|
rs759351290 CA10503259 |
271 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA10503258 rs776651800 |
272 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 272 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10503256 rs746820880 |
279 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 281 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 284 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 285 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334123901 rs267606332 |
290 | G>R | No |
ClinGen Ensembl |
|
|
rs1474291269 CA414183923 |
291 | D>V | No |
ClinGen gnomAD |
|
|
CA414183927 rs1164211508 |
291 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 297 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334123895 rs866610243 |
297 | K>R | No |
ClinGen TOPMed |
|
|
rs1223776184 CA414183858 |
300 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 301 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414183793 rs1294362329 |
308 | N>I | No |
ClinGen TOPMed |
|
|
CA334123880 rs1007550463 |
311 | D>G | No |
ClinGen TOPMed |
|
|
CA414183773 rs1007550463 |
311 | D>V | No |
ClinGen TOPMed |
|
|
rs975001120 CA334123885 |
311 | D>Y | No |
ClinGen Ensembl |
|
|
CA10503240 rs753647905 |
312 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA10503239 rs370487945 |
313 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776677734 CA10503237 |
319 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763123559 CA10503235 |
321 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs769708581 CA10503234 |
323 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199988206 CA10503233 |
324 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA10503232 rs367608865 |
324 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 326 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376175156 CA10503229 |
328 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA414183655 rs1391868194 |
329 | L>F | No |
ClinGen gnomAD |
|
|
CA10503228 rs758853662 |
330 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414183647 rs758853662 |
330 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10503227 rs752339658 |
332 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs778711551 CA10503226 |
333 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA10503225 rs754650766 |
334 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1064796338 CA16621187 RCV000481581 |
336 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 337 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334123596 rs965391501 |
339 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs779199297 CA10503206 |
340 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA414183551 rs1427990927 |
342 | G>D | No |
ClinGen TOPMed |
|
|
CA10503204 rs372808214 |
342 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414183554 rs372808214 |
342 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000996008 CA414183542 rs1603370101 |
344 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1178832981 CA414183533 |
345 | Y>H | No |
ClinGen gnomAD |
|
|
rs185347914 CA414183495 |
350 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs185347914 CA10503200 |
350 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA10503201 rs750307045 |
350 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757253031 CA10503199 |
351 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751342794 CA10503198 |
354 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10503197 rs763846052 |
357 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs760840918 CA10503193 |
359 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs766422375 CA10503194 |
359 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs773491980 COSM456611 CA10503192 |
361 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA414183417 rs1402767794 |
363 | R>G | No |
ClinGen gnomAD |
|
|
CA10503191 rs772689832 |
365 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1432679262 CA414183399 |
365 | R>M | No |
ClinGen gnomAD |
|
|
rs374676402 CA10503189 |
368 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1465234 rs1282813621 CA414183371 |
368 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs373472438 CA10503183 COSM456610 |
373 | R>C | Variant assessed as Somatic; 6.416e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373472438 CA10503184 |
373 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762578331 CA10503180 |
374 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA414183286 rs762578331 |
374 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758139177 CA10503179 |
376 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA10503178 rs754024994 |
377 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA10503176 COSM456609 rs761031567 |
379 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10503175 rs140032597 |
379 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414183189 rs1196848852 |
380 | Y>H | No |
ClinGen TOPMed |
|
|
rs1267800969 CA414183147 |
382 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 383 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414183135 rs1480554912 |
383 | E>K | No |
ClinGen TOPMed |
|
|
RCV001091706 rs2056117839 |
384 | K>missing | No |
ClinVar dbSNP |
|
|
CA334123371 rs144112997 |
386 | F>S | No |
ClinGen ESP TOPMed |
|
|
CA334123376 rs867006783 |
386 | F>V | No |
ClinGen Ensembl |
|
|
rs1161438667 CA414183043 |
391 | E>K | No |
ClinGen gnomAD |
|
|
RCV001280709 rs1472437659 |
392 | E>* | No |
ClinVar dbSNP |
|
|
rs1472437659 CA414183035 |
392 | E>K | No |
ClinGen gnomAD |
|
|
rs1437528048 CA414183021 |
393 | M>I | No |
ClinGen gnomAD |
|
|
CA414183022 rs1318649861 |
393 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA414183023 rs1318649861 |
393 | M>T | No |
ClinGen gnomAD |
|
|
rs1372804111 CA414182987 |
398 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 399 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774746357 CA10503171 |
399 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs375418085 CA10503169 |
401 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1186494670 CA414182944 |
404 | G>V | No |
ClinGen gnomAD |
|
|
rs1489553041 CA414182922 |
407 | A>V | No |
ClinGen gnomAD |
|
|
CA10503166 rs745569135 |
408 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA10503165 rs780652469 |
412 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770461601 CA10503164 |
415 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229085864 CA414182862 |
416 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 419 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1226608634 CA414182843 |
419 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 421 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200083156 CA334123318 |
422 | K>R | No |
ClinGen TOPMed |
|
|
rs1488633351 CA414182803 |
424 | E>V | No |
ClinGen TOPMed |
|
|
TCGA novel CA414182782 rs1259096709 |
427 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs1270572854 CA414182778 |
428 | R>T | No |
ClinGen gnomAD |
|
|
rs1064794658 CA16621186 RCV000478703 |
429 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA414181899 rs1441184681 |
436 | R>P | No |
ClinGen gnomAD |
|
|
CA414181869 rs1156990069 |
438 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 441 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 446 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 447 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10503140 rs776277929 |
449 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770359758 CA10503139 |
451 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10503138 rs746496759 |
456 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA10503137 rs367726987 |
458 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414181510 rs1194596884 |
459 | T>I | No |
ClinGen gnomAD |
|
|
rs1355088594 CA414181462 |
464 | S>P | No |
ClinGen gnomAD |
|
|
CA414181330 rs1603369407 |
473 | G>D | No |
ClinGen Ensembl |
|
|
CA10503135 rs748153613 |
475 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1311640312 CA414181302 |
475 | S>R | No |
ClinGen TOPMed |
|
|
rs1033237621 CA334121604 |
477 | R>I | No |
ClinGen TOPMed |
|
| TCGA novel | 478 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10503134 rs778807639 |
479 | E>G | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q9BZI7
[MIM: 300676]: Intellectual developmental disorder, X-linked, syndromic 14 (MRXS14)
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS14 patients manifest intellectual disability associated with other variable signs such as autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities. {ECO:0000269|PubMed:17704778}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS14 patients manifest intellectual disability associated with other variable signs such as autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities. {ECO:0000269|PubMed:17704778}. Note=The disease is caused by variants affecting the gene represented in this entry.
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| centriolar satellite | A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| exon-exon junction complex | A multi-subunit complex deposited by the spliceosome upstream of messenger RNA exon-exon junctions. The exon-exon junction complex provides a binding platform for factors involved in mRNA export and nonsense-mediated mRNA decay. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| mRNA binding | Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA transport | The directed movement of mRNA, messenger ribonucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | The nonsense-mediated decay pathway for nuclear-transcribed mRNAs degrades mRNAs in which an amino-acid codon has changed to a nonsense codon; this prevents the translation of such mRNAs into truncated, and potentially harmful, proteins. |
| nucleocytoplasmic transport | The directed movement of molecules between the nucleus and the cytoplasm. |
| positive regulation of translation | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9H1J1 | UPF3A | Regulator of nonsense transcripts 3A | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKEEKEHRPK | EKRVTLLTPA | GATGSGGGTS | GDSSKGEDKQ | DRNKEKKEAL | SKVVIRRLPP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TLTKEQLQEH | LQPMPEHDYF | EFFSNDTSLY | PHMYARAYIN | FKNQEDIILF | RDRFDGYVFL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DNKGQEYPAI | VEFAPFQKAA | KKKTKKRDTK | VGTIDDDPEY | RKFLESYATD | NEKMTSTPET |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLEEIEAKNR | ELIAKKTTPL | LSFLKNKQRM | REEKREERRR | REIERKRQRE | EERRKWKEEE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KRKRKDIEKL | KKIDRIPERD | KLKDEPKIKV | HRFLLQAVNQ | KNLLKKPEKG | DEKELDKREK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AKKLDKENLS | DERASGQSCT | LPKRSDSELK | DEKPKRPEDE | SGRDYRERER | EYERDQERIL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RERERLKRQE | EERRRQKERY | EKEKTFKRKE | EEMKKEKDTL | RDKGKKAEST | ESIGSSEKTE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KKEEVVKRDR | IRNKDRPAMQ | LYQPGARSRN | RLCPPDDSTK | SGDSAAERKQ | ESGISHRKEG |
| GEE |