Q8WYA6
PR
Gene name |
CTNNBL1 (C20orf33, PP8304) |
Protein name |
Beta-catenin-like protein 1 |
Names |
Nuclear-associated protein, NAP, Testis development protein NYD-SP19 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56259 |
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
9 structures for Q8WYA6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4CB8 | X-ray | 290 A | A | 77-563 | PDB |
| 4CB9 | X-ray | 300 A | A | 1-563 | PDB |
| 4CBA | X-ray | 310 A | A | 77-563 | PDB |
| 4HM9 | X-ray | 310 A | A | 1-563 | PDB |
| 4HNM | X-ray | 290 A | A | 75-563 | PDB |
| 4MFU | X-ray | 274 A | A | 77-563 | PDB |
| 4MFV | X-ray | 292 A | A/B | 33-563 | PDB |
| 7ABI | EM | 800 A | S | 1-563 | PDB |
| AF-Q8WYA6-F1 | Predicted | AlphaFoldDB |
383 variants for Q8WYA6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA9848670 rs201986512 VAR_087117 |
466 | M>V | IMD99; when expressed in a B lymphocyte cell line, leads to decreased frequencies of somatic hypermutations, a process involved in the production of isotype-switched high-affinity antibodies, the defect that can be rescued by the wild-type protein; decrease interaction with AICDA, hence impairs AICDA nuclear localization; may decrease protein stability; no effect on interaction with CDC5L [UniProt] | Yes |
ClinGen UniProt 1000Genomes ExAC dbSNP |
|
rs541543757 CA314654429 |
2 | D>V | No |
ClinGen 1000Genomes |
|
|
CA408938012 rs1489309076 |
4 | G>D | No |
ClinGen gnomAD |
|
|
CA314654430 rs1049702792 |
4 | G>S | No |
ClinGen TOPMed |
|
|
CA9848258 rs770154883 |
5 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA314654431 rs756220258 |
7 | L>M | No |
ClinGen Ensembl |
|
|
CA9848283 rs776118259 |
12 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA408936301 rs776118259 |
12 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA408936299 rs1380774193 |
12 | N>Y | No |
ClinGen gnomAD |
|
|
COSM265257 rs762613570 CA9848287 |
17 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1322725855 CA408936333 |
17 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA408936338 rs1376090498 |
18 | P>L | No |
ClinGen TOPMed |
|
|
rs376352806 CA408936337 |
18 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376352806 CA9848288 |
18 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408936342 rs1209318822 COSM267975 |
19 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs112045085 COSM2760723 CA9848289 |
19 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs150872211 CA9848292 |
20 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408936347 rs1418335471 |
20 | D>Y | No |
ClinGen TOPMed |
|
|
rs1159500027 CA408936356 |
21 | D>G | No |
ClinGen TOPMed |
|
|
rs1477009790 CA408936352 |
21 | D>N | No |
ClinGen gnomAD |
|
|
CA314658524 rs991986955 |
23 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA314658525 rs940777388 |
24 | E>G | No |
ClinGen TOPMed |
|
|
CA408936375 rs1424867236 |
24 | E>K | No |
ClinGen gnomAD |
|
|
rs369442657 CA9848295 |
26 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1475345896 CA408936404 |
27 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA408936410 rs1174625656 |
28 | M>R | No |
ClinGen gnomAD |
|
|
CA9848296 rs757562088 |
29 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779142999 CA9848297 |
29 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs202016331 CA9848298 |
30 | R>G | Variant assessed as Somatic; 0.0005545 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs373260848 CA9848299 |
30 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408936418 rs202016331 |
30 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1353939916 CA408936438 |
33 | T>A | No |
ClinGen TOPMed |
|
|
CA408936442 rs1401536786 |
33 | T>I | No |
ClinGen gnomAD |
|
|
CA9848300 rs780248772 |
35 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 36 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747561200 CA9848301 |
36 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA408936459 rs1217372820 |
37 | E>* | No |
ClinGen gnomAD |
|
|
CA408936462 rs1292467483 |
37 | E>G | No |
ClinGen TOPMed |
|
|
rs769100178 COSM1194999 CA9848302 |
38 | R>C | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs772739877 COSM1026522 CA9848303 |
38 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9848305 rs770335443 |
39 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9848306 rs774119782 |
39 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9848307 rs759081076 |
40 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767395462 CA9848308 COSM252458 |
40 | R>H | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs150059167 CA9848309 |
41 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9848311 rs764060163 |
42 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
CA9848310 COSM443771 rs760728264 |
42 | R>W | Variant assessed as Somatic; 9.247e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs765222283 CA9848314 |
46 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA9848313 rs762038907 |
46 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA408936526 rs1395420053 |
48 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408936540 rs1190848324 |
50 | E>A | No |
ClinGen TOPMed |
|
|
rs758523770 CA9848316 |
52 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA408936566 COSM3840933 rs1295150504 |
54 | D>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1568755826 CA408936583 |
56 | K>E | No |
ClinGen Ensembl |
|
| rs761516328 | 58 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 58 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368214237 CA408936603 |
58 | R>S | No |
ClinGen gnomAD |
|
|
CA9848319 rs143170003 |
65 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408936649 rs1170763911 |
65 | R>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 67 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308603634 CA408936665 |
68 | E>Q | No |
ClinGen gnomAD |
|
|
rs748650840 CA9848324 |
69 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9848325 rs371100789 |
71 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 73 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1374484635 CA408936726 |
74 | E>G | No |
ClinGen TOPMed |
|
|
rs1568757499 CA408936731 |
75 | E>K | No |
ClinGen Ensembl |
|
|
rs1181903003 CA408936769 |
80 | S>G | No |
ClinGen gnomAD |
|
|
CA408936781 rs1568757524 |
81 | S>L | No |
ClinGen Ensembl |
|
|
rs781506333 CA9848342 |
88 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs756531288 CA9848344 |
90 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA314658971 rs148717643 |
94 | Y>C | No |
ClinGen ESP |
|
|
CA9848345 rs202008237 |
98 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1600454004 CA408936906 |
99 | L>V | No |
ClinGen Ensembl |
|
|
rs144576870 CA9848347 |
100 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9848346 rs745310323 |
100 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs991704511 CA314658972 |
107 | P>L | No |
ClinGen Ensembl |
|
|
CA408936962 rs1249525134 |
107 | P>S | No |
ClinGen TOPMed |
|
|
rs1264600388 CA408937618 |
110 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs970349821 CA314659921 |
111 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA314659920 rs1027159882 |
111 | M>V | No |
ClinGen Ensembl |
|
|
CA9848373 rs200099302 |
112 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408937634 rs1568761287 |
113 | S>T | No |
ClinGen Ensembl |
|
|
CA314659922 rs867230210 |
119 | D>N | No |
ClinGen Ensembl |
|
|
CA314659923 rs773386598 |
122 | Q>E | No |
ClinGen Ensembl |
|
|
rs1240626886 CA408937698 |
122 | Q>R | No |
ClinGen TOPMed |
|
|
rs1338599034 CA408937703 |
123 | E>K | No |
ClinGen TOPMed |
|
|
CA9848375 rs774367768 |
124 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147906955 CA408937724 |
125 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141617183 CA9848377 |
126 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408937726 rs141617183 |
126 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775940164 CA9848378 |
127 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9848379 rs761006434 |
129 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs767022909 CA408937748 |
130 | M>L | No |
ClinGen TOPMed |
|
|
rs1385459964 CA408937749 |
130 | M>R | No |
ClinGen gnomAD |
|
|
CA314659925 rs767022909 |
130 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA408937805 rs1241763834 |
138 | V>A | No |
ClinGen gnomAD |
|
|
rs1439289400 CA408937802 |
138 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 142 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1303469003 CA408937837 |
143 | V>G | No |
ClinGen gnomAD |
|
|
rs754680214 CA9848385 |
145 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408937849 rs1352383522 |
145 | S>P | No |
ClinGen gnomAD |
|
|
CA408937861 rs1568761420 |
147 | L>F | No |
ClinGen Ensembl |
|
|
rs1265085025 CA408937867 |
148 | G>D | No |
ClinGen gnomAD |
|
|
CA9848388 rs755928160 |
148 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194230721 CA408937883 |
151 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9848390 rs749205487 |
152 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9848392 rs774420988 COSM3423625 |
153 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9848393 rs745892088 |
155 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408937914 rs1568761470 |
155 | T>R | No |
ClinGen Ensembl |
|
| TCGA novel | 156 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9848428 rs753478329 COSM186465 |
159 | I>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1415083721 CA408938422 |
160 | A>T | No |
ClinGen gnomAD |
|
|
rs757114015 CA9848429 |
161 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9848431 rs750413413 |
163 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9848432 rs758303006 |
164 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9848433 rs780025985 |
165 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1232627053 CA408938468 |
166 | Q>R | No |
ClinGen gnomAD |
|
|
rs1233990549 CA408938485 |
168 | L>I | No |
ClinGen gnomAD |
|
|
COSM1713436 CA408938504 rs1254408001 |
169 | T>R | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1203672664 CA408938514 |
170 | D>N | No |
ClinGen TOPMed |
|
|
CA314660984 rs990726222 |
171 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA314660986 rs200455301 |
173 | T>A | No |
ClinGen 1000Genomes |
|
|
CA9848434 rs747040372 |
173 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA408938594 rs1487526254 |
175 | H>R | No |
ClinGen gnomAD |
|
|
rs199629672 CA314660987 |
176 | E>* | No |
ClinGen 1000Genomes |
|
| TCGA novel | 179 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768771943 CA9848435 |
179 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9848436 rs781532775 |
180 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA9848437 rs748375810 |
182 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA408938746 rs1600468346 |
184 | L>F | No |
ClinGen Ensembl |
|
|
COSM1026524 CA9848440 rs376332701 |
186 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA408938783 rs777694815 |
187 | A>G | No |
ClinGen gnomAD |
|
|
rs771403285 CA9848441 |
187 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA314660988 rs777694815 |
187 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 189 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1159547456 CA408938886 |
190 | D>G | No |
ClinGen gnomAD |
|
|
rs758269905 CA9848449 |
193 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467880959 CA408938946 |
194 | V>L | No |
ClinGen TOPMed |
|
|
rs1404772783 CA408939006 |
198 | V>I | No |
ClinGen TOPMed |
|
|
CA408939094 rs1441740452 |
203 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs886253006 CA314661745 |
203 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs886253006 CA314661746 |
203 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA314661747 rs931819059 |
204 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA408939112 rs1225739798 |
205 | D>V | No |
ClinGen gnomAD |
|
|
CA408939129 rs1321531666 |
207 | S>C | No |
ClinGen gnomAD |
|
|
CA408939126 rs1234375464 |
207 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 212 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA314661749 rs1016523708 |
212 | A>V | No |
ClinGen gnomAD |
|
|
CA314661750 rs867056026 |
213 | D>H | No |
ClinGen Ensembl |
|
|
CA408939183 rs867056026 |
213 | D>N | No |
ClinGen Ensembl |
|
|
rs1177458941 CA408939197 |
215 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs530483499 CA9848451 |
218 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1470946467 CA408939220 |
218 | T>S | No |
ClinGen gnomAD |
|
|
CA408939452 rs199865982 |
222 | V>L | No |
ClinGen Ensembl |
|
|
CA314662019 rs199865982 |
222 | V>M | No |
ClinGen Ensembl |
|
|
rs765366884 CA314662020 |
225 | M>V | No |
ClinGen gnomAD |
|
|
rs746327161 CA9848460 COSM1026525 |
229 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs370578340 CA9848458 |
229 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408939527 rs1395478157 |
232 | M>I | No |
ClinGen gnomAD |
|
|
rs138624289 CA9848461 |
233 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776066403 CA9848462 |
234 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9848464 rs764807430 |
235 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408939552 rs1411740400 |
236 | G>D | No |
ClinGen gnomAD |
|
|
rs1411740400 CA408939554 |
236 | G>V | No |
ClinGen gnomAD |
|
|
rs773006796 CA9848466 |
240 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA9848465 rs773006796 |
240 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs140243689 CA9848468 |
242 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs186475150 CA9848469 RCV000899937 |
245 | L>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs529268673 CA9848471 |
246 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9848472 rs756417793 |
247 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239080765 CA408935631 |
254 | P>L | No |
ClinGen gnomAD |
|
|
rs200725330 CA408935660 |
258 | N>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs767503322 CA9848488 |
258 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408935662 rs1375376730 |
259 | K>E | No |
ClinGen TOPMed |
|
|
CA408935677 rs1180701426 |
261 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs752666797 CA9848489 |
261 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA408935690 rs1359071712 |
263 | S>G | No |
ClinGen TOPMed |
|
|
CA408935697 rs1262004480 |
264 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA408935698 rs1262004480 |
264 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9848491 rs567088978 |
272 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs137951659 COSM1190255 CA9848492 |
273 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs137951659 CA9848493 |
273 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1316602885 CA408935787 |
275 | E>G | No |
ClinGen TOPMed |
|
|
CA314663015 rs747346768 |
276 | N>S | No |
ClinGen Ensembl |
|
|
rs1389280812 CA408935801 |
277 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 281 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1336066826 CA408935832 |
282 | E>K | No |
ClinGen gnomAD |
|
|
rs764287137 CA9848511 |
283 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA408935865 rs1364613497 |
287 | D>N | No |
ClinGen TOPMed |
|
|
CA314663143 rs200219582 |
301 | P>H | No |
ClinGen 1000Genomes |
|
|
CA9848532 rs761860574 |
303 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433673760 CA408935997 |
304 | A>S | No |
ClinGen gnomAD |
|
|
CA408936015 rs1210565269 |
306 | E>D | No |
ClinGen TOPMed |
|
|
rs148139169 CA9848534 |
307 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9848535 rs763141822 |
307 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA314663144 rs1022138590 |
309 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766754385 CA9848536 |
309 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1236417064 CA408936065 |
313 | L>M | No |
ClinGen TOPMed |
|
| TCGA novel | 314 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408936074 rs1359762307 |
314 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 318 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375145301 CA9848537 |
319 | S>C | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 319 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA314663146 rs6067593 |
321 | L>I | No |
ClinGen Ensembl |
|
| TCGA novel | 326 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369990971 CA9848539 |
326 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753242321 CA9848540 |
327 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756755975 CA408936161 |
327 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs756755975 CA9848541 |
327 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs753242321 CA408936159 |
327 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778461544 CA9848542 COSM1026530 |
329 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1026531 rs745535538 CA9848543 |
329 | R>H | Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA408936202 rs1260556734 |
334 | E>K | No |
ClinGen gnomAD |
|
|
rs1485161966 CA408936210 |
335 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 345 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748058767 CA9848567 |
348 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9848566 rs781022065 |
348 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA408937030 rs1340770833 |
349 | S>F | No |
ClinGen TOPMed |
|
|
rs777834259 CA9848569 |
350 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs141919968 CA9848568 |
350 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770993198 CA9848571 |
352 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408937059 rs1334746531 |
354 | L>P | No |
ClinGen gnomAD |
|
|
CA9848573 rs759779462 |
355 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs772344698 CA9848574 |
356 | V>M | No |
ClinGen ExAC TOPMed |
|
|
rs750024619 CA9848575 |
361 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 362 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408937124 rs1230823529 |
364 | P>R | No |
ClinGen gnomAD |
|
|
CA9848577 rs764634448 |
365 | E>K | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1218546723 CA408937154 |
369 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs75954662 CA314665674 |
369 | N>T | No |
ClinGen Ensembl |
|
|
rs762623091 CA9848579 |
373 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1170718978 CA408937189 |
373 | F>L | No |
ClinGen TOPMed |
|
|
CA408937211 rs1420042607 |
376 | I>M | No |
ClinGen gnomAD |
|
|
rs765959677 CA9848580 |
378 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9848581 rs751223032 COSM1026534 |
380 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 380 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754611295 CA9848582 |
381 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs986512943 CA314665675 |
382 | I>M | No |
ClinGen Ensembl |
|
|
rs202058629 CA9848584 |
382 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756020064 CA9848585 |
384 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA314665676 rs910554790 |
385 | L>V | No |
ClinGen Ensembl |
|
|
CA408937263 rs1295673129 |
386 | F>L | No |
ClinGen gnomAD |
|
|
rs755804123 CA314665678 |
391 | R>G | No |
ClinGen Ensembl |
|
|
rs200874158 CA314665680 |
392 | K>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA314665679 rs937079115 |
392 | K>Q | No |
ClinGen TOPMed |
|
|
CA408937313 rs1308871827 |
393 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1308871827 CA408937311 |
393 | I>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 393 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408937315 rs1568787918 |
393 | I>T | No |
ClinGen Ensembl |
|
|
rs771046371 CA9848588 |
394 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9848589 rs778914241 |
398 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1275774894 CA408937353 |
399 | T>N | No |
ClinGen TOPMed |
|
|
CA314665681 rs956144332 |
400 | E>* | No |
ClinGen Ensembl |
|
|
rs746105518 CA9848590 |
403 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1218017039 CA408937394 |
405 | E>K | No |
ClinGen TOPMed |
|
|
rs763854569 CA314669527 |
406 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408938836 rs1446320372 |
409 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA408938872 rs1276117719 |
414 | L>I | No |
ClinGen TOPMed |
|
|
CA9848606 rs778965440 |
416 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757144734 CA9848605 |
416 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745899014 CA408938908 |
417 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394700655 CA408938915 |
418 | L>P | No |
ClinGen gnomAD |
|
|
rs1175895904 CA408938936 |
420 | G>A | No |
ClinGen gnomAD |
|
|
CA408938933 rs1433158922 |
420 | G>R | No |
ClinGen gnomAD |
|
|
CA408938965 rs758391064 |
423 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9848609 rs780394505 |
423 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9848608 rs758391064 |
423 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1026537 rs1418919341 CA408938985 |
425 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA314669529 rs1010453280 |
425 | R>W | No |
ClinGen Ensembl |
|
|
CA9848614 rs770360937 |
430 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 430 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408939046 rs1368304027 |
432 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759143791 CA9848616 |
435 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA9848615 rs773747899 |
435 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1349722835 CA408939105 |
436 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9848638 rs763676561 |
438 | V>A | No |
ClinGen ExAC |
|
|
rs1254465075 CA408937421 |
439 | D>E | No |
ClinGen gnomAD |
|
|
rs1473180095 CA408937432 |
441 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 442 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1414951761 CA408937438 |
442 | M>T | No |
ClinGen gnomAD |
|
|
CA408937436 rs1164856723 |
442 | M>V | No |
ClinGen gnomAD |
|
|
CA408937482 rs1459001753 |
448 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9848639 rs144638509 |
451 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9848642 rs368235471 |
452 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9848641 rs764912985 |
452 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs762753256 CA9848643 |
454 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9848644 rs766514341 |
455 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9848645 rs141470801 |
455 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408937537 rs1391004368 |
456 | D>E | No |
ClinGen TOPMed |
|
|
CA408937531 rs1347442821 |
456 | D>H | No |
ClinGen TOPMed |
|
|
CA408937530 rs1347442821 |
456 | D>N | No |
ClinGen TOPMed |
|
|
CA408937543 rs1205581960 |
457 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA408937552 rs1299614233 |
458 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9848647 rs781622466 |
459 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408937579 rs1181632206 |
462 | E>V | No |
ClinGen gnomAD |
|
|
rs923790934 CA314669765 |
464 | H>P | No |
ClinGen Ensembl |
|
|
rs777949416 CA408937596 |
464 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs754092837 | 465 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA314671710 rs997876254 |
465 | D>G | No |
ClinGen TOPMed |
|
|
CA9848672 rs746340982 |
468 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9848671 rs779458238 |
468 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314671711 rs145448184 |
469 | R>* | No |
ClinGen ESP TOPMed |
|
|
CA9848674 rs780634402 |
469 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408938110 rs1459501929 |
471 | E>D | No |
ClinGen TOPMed |
|
|
CA9848675 rs747870823 |
472 | I>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 473 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs535666882 CA9848676 COSM1249407 |
474 | D>N | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs145224089 CA9848677 |
475 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149088688 CA9848679 |
476 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408938150 rs1233896643 |
477 | T>I | No |
ClinGen gnomAD |
|
|
CA9848682 rs368154050 |
478 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9848681 rs754843184 |
478 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408938181 rs1211371435 |
481 | F>L | No |
ClinGen gnomAD |
|
|
rs1211579436 CA408938186 |
482 | Y>C | No |
ClinGen TOPMed |
|
|
CA9848685 rs142148950 |
484 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9848684 rs760964033 |
484 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9848686 COSM212270 rs778960495 |
485 | R>C | large_intestine breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9848687 rs151227978 |
485 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408938203 rs1319527724 |
486 | L>V | No |
ClinGen TOPMed |
|
|
rs1281019391 CA408938211 |
487 | D>G | No |
ClinGen TOPMed |
|
|
CA408938209 rs1568815661 |
487 | D>H | No |
ClinGen Ensembl |
|
|
CA408938216 rs1403490477 |
488 | A>T | No |
ClinGen TOPMed |
|
|
CA408938220 rs1467718459 |
488 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1034299428 CA314671712 |
489 | G>E | No |
ClinGen TOPMed |
|
|
rs1389044804 CA408938224 |
489 | G>W | No |
ClinGen TOPMed |
|
|
rs1433557628 CA408938250 |
493 | L>H | No |
ClinGen gnomAD |
|
|
CA9848689 rs750953784 |
495 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9848690 rs181057353 |
499 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408938314 rs945981834 |
500 | M>K | No |
ClinGen TOPMed |
|
|
rs945981834 CA314671715 |
500 | M>T | No |
ClinGen TOPMed |
|
|
rs1458802998 CA408938311 |
500 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755636908 CA9848693 |
502 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9848694 rs546129500 |
505 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9848696 VAR_059638 rs4811236 |
507 | N>D | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
rs772027227 CA9848697 |
507 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9848699 rs772076295 |
508 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9848701 rs760729842 |
509 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA408938407 rs1600534841 |
510 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 510 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9848702 rs764199398 |
510 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9848725 rs763375470 |
512 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1034379046 CA408938502 |
512 | R>H | No |
ClinGen gnomAD |
|
|
CA314671738 rs1034379046 |
512 | R>L | No |
ClinGen gnomAD |
|
|
rs958768981 CA314671739 |
514 | R>S | No |
ClinGen Ensembl |
|
|
CA408938529 rs1300322795 |
515 | V>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 517 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408938549 rs1369025257 |
517 | Q>R | No |
ClinGen gnomAD |
|
|
CA9848728 COSM1411607 rs760040999 |
522 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs763515386 CA9848729 COSM70333 |
522 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA408938683 rs1428897109 |
528 | I>V | No |
ClinGen TOPMed |
|
|
CA9848730 rs753329934 |
529 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9848731 rs756195419 |
531 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9848732 rs778774670 |
533 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1257106567 CA408938748 |
534 | K>E | No |
ClinGen gnomAD |
|
|
CA408939243 rs1600543700 |
535 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 535 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408939279 rs1568821768 |
540 | I>N | No |
ClinGen Ensembl |
|
|
CA314673108 rs745900422 |
540 | I>V | No |
ClinGen Ensembl |
|
|
CA9848765 rs772293545 |
541 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA408939284 rs1426469222 CA408939283 |
541 | G>R | No |
ClinGen gnomAD |
|
|
rs199857944 CA408939296 |
543 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199857944 CA9848767 |
543 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9848769 rs145282312 |
544 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9848768 COSM723803 rs370193565 |
544 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1329057991 CA408939310 |
545 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9848770 rs558966247 |
546 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9848771 rs558966247 |
546 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408939321 rs1226531741 |
547 | E>D | No |
ClinGen gnomAD |
|
|
rs754842251 CA9848773 |
547 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9848774 rs767279596 |
548 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs752655870 CA9848775 |
549 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201887283 CA9848777 |
549 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9848776 rs752655870 |
549 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879709999 CA314673110 |
550 | E>D | No |
ClinGen gnomAD |
|
|
CA408939346 CA408939345 rs749426178 |
551 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408939348 rs1201435886 |
552 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1201435886 CA408939349 COSM1411609 |
552 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 553 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779235318 CA9848780 |
555 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9848781 rs372667358 |
555 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9848782 rs772504452 |
556 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9848783 rs769925256 |
558 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs747521273 CA9848785 |
563 | F>S | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q8WYA6
[MIM: 619846]: Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias (IMD99)
An autosomal recessive immunologic disorder characterized by recurrent sinopulmonary infections appearing in early childhood, B- and T-cell lymphopenia, and progressive severe hypogammaglobulinemia with decreased memory B cells. Patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. {ECO:0000269|PubMed:32484799}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive immunologic disorder characterized by recurrent sinopulmonary infections appearing in early childhood, B- and T-cell lymphopenia, and progressive severe hypogammaglobulinemia with decreased memory B cells. Patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. {ECO:0000269|PubMed:32484799}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q8WYA6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Beta-catenin-like protein 1, N-terminal | 52 - 533 | IPR013180 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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. |
| Prp19 complex | A protein complex consisting of Prp19 and associated proteins that is involved in the transition from the precatalytic spliceosome to the activated form that catalyzes step 1 of splicing, and which remains associated with the spliceosome through the second catalytic step. It is widely conserved, found in both yeast and mammals, though the exact composition varies. In S. cerevisiae, it contains Prp19p, Ntc20p, Snt309p, Isy1p, Syf2p, Cwc2p, Prp46p, Clf1p, Cef1p, and Syf1p. |
| spliceosomal complex | Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| mRNA splicing, via spliceosome | The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| somatic diversification of immunoglobulins | The somatic process that results in the generation of sequence diversity of immunoglobulins. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDVGELLSYQ | PNRGTKRPRD | DEEEEQKMRR | KQTGTRERGR | YREEEMTVVE | EADDDKKRLL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QIIDRDGEEE | EEEEEPLDES | SVKKMILTFE | KRSYKNQELR | IKFPDNPEKF | MESELDLNDI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IQEMHVVATM | PDLYHLLVEL | NAVQSLLGLL | GHDNTDVSIA | VVDLLQELTD | IDTLHESEEG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AEVLIDALVD | GQVVALLVQN | LERLDESVKE | EADGVHNTLA | IVENMAEFRP | EMCTEGAQQG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LLQWLLKRLK | AKMPFDANKL | YCSEVLAILL | QDNDENRELL | GELDGIDVLL | QQLSVFKRHN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PSTAEEQEMM | ENLFDSLCSC | LMLSSNRERF | LKGEGLQLMN | LMLREKKISR | SSALKVLDHA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MIGPEGTDNC | HKFVDILGLR | TIFPLFMKSP | RKIKKVGTTE | KEHEEHVCSI | LASLLRNLRG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QQRTRLLNKF | TENDSEKVDR | LMELHFKYLG | AMQVADKKIE | GEKHDMVRRG | EIIDNDTEEE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FYLRRLDAGL | FVLQHICYIM | AEICNANVPQ | IRQRVHQILN | MRGSSIKIVR | HIIKEYAENI |
| 550 | 560 | ||||
| GDGRSPEFRE | NEQKRILGLL | ENF |