O00623
PR
Gene name |
PEX12 (PAF3) |
Protein name |
Peroxisome assembly protein 12 |
Names |
Peroxin-12, Peroxisome assembly factor 3, PAF-3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5193 |
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 O00623
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O00623-F1 | Predicted | AlphaFoldDB |
340 variants for O00623
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1555549923 RCV000672791 |
1 | M>missing | Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001065126 rs2072797963 |
3 | E>D | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinVar dbSNP |
|
rs769571282 RCV001867975 RCV000594312 CA8505005 |
3 | E>G | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555549917 RCV000672478 |
7 | H>missing | Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001248425 rs143621995 CA8505002 |
7 | H>R | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000008218 rs61752097 |
9 | T>missing | Peroxisomal biogenesis disorder 3b [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001050835 rs1290469936 |
11 | A>missing | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8504998 RCV000920088 rs193253559 |
14 | A>D | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs888633730 RCV000665795 RCV002532046 CA290070309 |
17 | Q>* | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001206889 rs2072797369 |
20 | I>* | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000668380 RCV001868221 CA625820440 rs1238451790 |
26 | Q>R | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000673039 rs1555549909 |
30 | M>missing | Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001082581 VAR_058389 RCV000078560 CA145995 rs147530802 RCV000514867 RCV002498379 RCV000989844 |
34 | R>S | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B PBD-CG3; benign variant [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs727504078 RCV000153675 RCV001850102 CA234522 |
39 | H>Q | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1412916235 RCV001035823 RCV000728569 RCV000665716 |
61 | E>K | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000669057 rs1214971073 |
64 | T>missing | Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2072793873 RCV001058798 |
67 | D>G | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207603 rs2072793797 |
68 | L>H | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000662039 rs61752098 RCV000662038 RCV000671429 |
70 | L>missing | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767447750 RCV000666102 RCV001861749 CA8504947 |
71 | Q>* | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001855532 RCV000670011 rs765404768 CA8504943 |
74 | Y>* | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001387645 rs1555549876 RCV000664813 |
75 | L>missing | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8504938 rs773576922 RCV001223397 CA399138569 |
79 | S>R | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV001296702 rs2072793061 |
80 | A>V | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001297731 rs140611267 CA8504937 |
82 | F>C | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1195136213 RCV001294901 CA399138509 |
88 | G>A | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000665252 RCV000781708 rs61752100 RCV000690109 RCV000595990 |
90 | K>missing | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000008220 CA119068 rs28936698 |
91 | R>S | Peroxisomal biogenesis disorder 3b [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001245050 CA8504927 rs767354075 |
98 | H>Q | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1003905752 RCV001862151 RCV000728553 CA290069615 |
99 | K>E | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs563487343 RCV001071991 RCV002555914 CA8504925 |
102 | R>S | Peroxisome biogenesis disorder 3A (Zellweger) Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2072792418 RCV001212516 |
102 | R>T | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000679868 CA235963 rs776731688 RCV000171254 RCV000675037 |
112 | Q>* | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs376279395 CA290069570 RCV001038495 |
112 | Q>R | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000667830 RCV002521897 CA8504921 RCV000260746 RCV000379331 rs767207001 |
117 | I>V | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10649923 RCV000672165 rs879075660 RCV000371870 |
118 | M>T | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002491207 CA8504920 RCV001365902 RCV000593454 COSM185192 rs773708442 |
118 | M>V | Peroxisome biogenesis disorder 3A (Zellweger) Variant assessed as Somatic; 0.0 impact. large_intestine Peroxisome biogenesis disorder type 3B [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001861489 RCV000672446 RCV000989843 RCV002282136 rs751058068 RCV000440158 |
123 | L>missing | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000669505 rs1458853023 RCV001861777 |
131 | E>missing | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1260902616 RCV001204656 CA399138167 |
141 | D>N | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001175104 rs2072791318 |
144 | S>P | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001051873 CA399138122 rs1324878121 |
148 | P>S | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000781713 rs1567730901 |
149 | S>missing | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001729380 CA145996 RCV000078561 RCV002515755 rs138731505 RCV000970690 |
151 | R>C | Peroxisome biogenesis disorder 3A (Zellweger) Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002521937 RCV001080036 RCV000275125 CA8504906 rs150186509 |
151 | R>H | Peroxisome biogenesis disorder 3A (Zellweger) Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA399138085 RCV000666724 rs1555549855 |
154 | R>* | Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000670939 RCV000502221 rs61752102 |
178 | Q>missing | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_058390 | 178 | Q>del | PBD-CG3 [UniProt] | Yes | UniProt |
|
RCV000666018 RCV000008216 RCV001193474 COSM3387807 CA119065 rs61752103 RCV000032926 |
180 | R>* | Peroxisomal biogenesis disorder 3b Peroxisome biogenesis disorder 3A (Zellweger) Variant assessed as Somatic; 0.0 impact. pancreas Peroxisome biogenesis disorder Peroxisome biogenesis disorder type 3B [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA8504895 RCV001205430 rs61752103 |
180 | R>G | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM176755 CA8504894 RCV001212248 rs745420734 |
180 | R>Q | Peroxisome biogenesis disorder 3A (Zellweger) Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA399137854 RCV001220428 rs1336163775 |
189 | H>Y | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2072790056 RCV001198670 |
191 | P>T | Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767608984 CA8504883 RCV001308495 |
201 | G>C | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8504882 RCV001390433 RCV000666766 rs61752105 |
202 | R>* | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA290069265 RCV001333350 rs896156854 |
203 | L>P | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA8504880 RCV000819199 rs61752106 RCV000671389 RCV000781711 |
209 | Q>* | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1199283977 RCV000672949 |
215 | P>missing | Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002533104 RCV000729380 CA290069219 rs773891359 |
219 | S>G | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs764839291 CA8504877 RCV001240135 |
221 | M>V | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA399137650 RCV000668008 rs1555549841 |
222 | Q>* | Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001239976 rs1428801230 CA399137615 |
227 | S>N | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000410147 rs62642859 RCV000412130 |
229 | S>missing | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000667506 rs1555549769 |
229 | S>missing | Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000008215 CA119063 rs104894616 |
231 | K>* | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_087150 | 231 | K>del | PBD3A [UniProt] | Yes | UniProt |
|
RCV000287024 RCV001083308 CA8504854 rs139417458 |
241 | G>V | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000781710 rs61752107 RCV000409475 RCV000728570 RCV000410995 |
245 | L>missing | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8504851 RCV000974679 rs12941376 VAR_050495 RCV001575602 RCV001805945 |
245 | L>I | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200413804 RCV000765347 RCV000595486 RCV000781712 CA8504848 RCV002532678 |
246 | S>Y | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002532602 CA290068383 RCV000595610 rs1030736075 |
247 | L>V | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000669254 RCV001174916 RCV001333351 RCV001008292 rs61752108 |
249 | T>missing | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001038648 CA8504846 rs773962549 |
253 | V>A | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000343654 rs746089337 CA8504844 RCV001850453 |
255 | V>I | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000416562 rs1057519507 |
256 | F>missing | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555549754 RCV000669146 |
258 | L>missing | Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001385892 RCV000668677 rs754193088 |
262 | D>missing | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759584047 RCV000665361 RCV000705464 |
262 | D>G | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8504840 rs747099919 RCV001237704 RCV000666647 |
263 | W>* | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001124645 CA8504839 rs142726996 |
265 | Y>H | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs766182813 RCV001124644 RCV002482239 CA8504833 |
286 | V>I | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000667630 rs1366848752 |
289 | D>missing | Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_087151 | 292 | S>del | PBD3A [UniProt] | Yes | UniProt |
|
RCV002477223 RCV000412263 RCV000586945 rs398123301 RCV000078563 RCV002514382 RCV000410739 |
297 | L>missing | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder Inborn genetic diseases Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs398123302 RCV000669619 RCV001854382 RCV000078564 |
299 | K>* | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8504824 RCV003169690 rs145574816 RCV001346987 |
301 | K>N | Peroxisome biogenesis disorder 3A (Zellweger) Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs373860467 RCV001051700 CA8504823 |
302 | T>I | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA243136 RCV002516723 RCV002516722 RCV000177030 rs373666248 |
311 | R>W | Peroxisome biogenesis disorder 3A (Zellweger) Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000008221 CA119070 rs61752112 RCV000675048 |
317 | L>F | Peroxisomal biogenesis disorder 3b Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000625796 RCV000008217 RCV000415755 CA119067 rs28936697 RCV002281700 VAR_031998 |
320 | S>F | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisomal biogenesis disorder 3b Peroxisome biogenesis disorder PBD3B; attenuates interaction with PEX10 and decreases peroxisomal protein import [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001382391 RCV000674917 rs749650201 |
321 | G>missing | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs941358133 RCV000667563 CA290068101 |
326 | Y>* | Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000674189 RCV001239384 rs764657253 |
330 | F>missing | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002553048 CA8504807 rs762912502 RCV001038818 |
333 | V>L | Peroxisome biogenesis disorder 3A (Zellweger) Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000674819 rs760739894 RCV001378080 CA8504804 RCV000520537 |
337 | Q>* | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8504803 rs772028045 RCV001345147 |
341 | I>F | Peroxisome biogenesis disorder 3A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000671270 rs1555549723 |
342 | T>missing | Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267608184 RCV002250679 RCV001378694 RCV000671986 |
349 | Q>missing | Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_058391 | 349 | Q>del | PBD-CG3 and PBD3B [UniProt] | Yes | UniProt |
|
RCV000672360 rs1555549722 |
357 | P>missing | Peroxisome biogenesis disorder type 3B [ClinVar] | Yes |
ClinVar dbSNP |
| rs1555549923 | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8505004 rs555313611 |
4 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA399139047 rs1344931108 |
6 | A>T | No |
ClinGen TOPMed |
|
|
rs748429704 CA8505001 |
8 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs376640934 CA290070358 |
9 | T>A | No |
ClinGen Ensembl |
|
|
rs367944383 CA8505000 |
9 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768791993 CA8504999 |
10 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8504997 rs200048804 |
15 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA290070310 rs979319729 |
16 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 16 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290070301 rs561976188 |
17 | Q>H | No |
ClinGen gnomAD |
|
|
CA8504996 rs756528221 |
17 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs750863211 CA8504995 |
18 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs886041458 RCV000295850 |
19 | S>missing | No |
ClinVar dbSNP |
|
|
CA8504993 rs756812775 |
19 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs727504079 CA234524 RCV000153676 |
20 | I>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1567731804 CA399138942 |
23 | V>L | No |
ClinGen Ensembl |
|
|
rs1490000609 CA399138938 |
24 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs752615361 CA8504989 |
25 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA8504990 rs762591605 |
25 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 27 | D>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1336483300 CA399138911 |
28 | S>G | No |
ClinGen gnomAD |
|
|
CA399138900 RCV000731271 rs1567731767 |
29 | L>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8504985 rs770777877 |
34 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8504983 rs373559171 |
35 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8504982 rs749431588 |
35 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs373559171 CA8504984 |
35 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA290070213 rs1046635472 |
37 | L>V | No |
ClinGen TOPMed |
|
|
CA8504981 rs780677964 |
39 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA399138827 rs1299962521 |
41 | V>A | No |
ClinGen TOPMed |
|
|
rs746311261 CA8504961 |
43 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 44 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399138779 rs1597923578 |
47 | S>T | No |
ClinGen Ensembl |
|
|
rs936321326 CA290069842 |
48 | N>I | No |
ClinGen TOPMed |
|
| TCGA novel | 49 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8504959 rs771188005 |
50 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA290069812 rs756156620 |
52 | Y>C | No |
ClinGen TOPMed |
|
|
CA399138742 rs1451435911 |
53 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8504956 rs777258588 |
55 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs758005394 CA8504955 |
56 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417921861 CA399138710 |
57 | R>M | No |
ClinGen gnomAD |
|
|
rs1167729519 CA399138699 |
58 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1597923545 CA399138705 |
58 | W>G | No |
ClinGen Ensembl |
|
|
rs747820399 CA8504954 |
59 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1597923539 CA399138696 |
59 | F>V | No |
ClinGen Ensembl |
|
|
CA8504953 rs778333662 |
60 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8504952 rs754484547 |
61 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 61 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399138676 rs1461033856 |
62 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766393993 CA8504950 |
64 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA290069739 rs923069079 |
65 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1345176417 CA399138646 |
67 | D>Y | No |
ClinGen TOPMed |
|
|
CA8504948 rs750195604 |
68 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 72 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290069717 rs996074460 |
73 | H>R | No |
ClinGen Ensembl |
|
|
rs775861350 CA8504945 |
74 | Y>C | No |
ClinGen ExAC |
|
|
CA399138601 rs1338150524 |
74 | Y>H | No |
ClinGen gnomAD |
|
|
rs1597923462 CA399138586 |
76 | S>F | No |
ClinGen Ensembl |
|
|
rs1403741973 CA399138580 |
77 | R>S | No |
ClinGen TOPMed |
|
|
rs759749799 CA8504942 |
78 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759749799 CA399138575 |
78 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776980491 CA8504941 |
79 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8504940 rs771507228 |
79 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 85 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145784404 CA8504935 |
87 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
| rs61752099 | 87 | Y>* | No | Ensembl | |
|
rs1232353549 CA399138512 |
88 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 91 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399138474 rs754468289 |
93 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8504932 rs754468289 |
93 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748872929 CA8504931 |
94 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1244899717 CA399138472 |
94 | M>V | No |
ClinGen gnomAD |
|
|
rs779465431 CA8504930 |
97 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA399138449 rs1221773783 |
97 | T>S | No |
ClinGen TOPMed |
|
|
rs750345340 CA8504928 |
98 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA399138428 rs1372883240 |
100 | S>F | No |
ClinGen gnomAD |
|
|
rs1316034375 CA399138427 |
101 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1167238113 CA399138397 |
105 | S>N | No |
ClinGen gnomAD |
|
|
CA399138394 rs1597923365 |
105 | S>R | No |
ClinGen Ensembl |
|
|
rs896128888 CA290069593 |
106 | A>G | No |
ClinGen gnomAD |
|
|
rs371014792 CA8504923 |
107 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000733171 rs1567731075 CA399138380 |
108 | L>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA399138375 rs1407671721 |
109 | P>A | No |
ClinGen TOPMed |
|
|
rs1471127673 CA399138369 |
110 | K>E | No |
ClinGen gnomAD |
|
|
CA290069578 rs1056238409 |
111 | Q>* | No |
ClinGen gnomAD |
|
|
CA399138362 rs1056238409 |
111 | Q>E | No |
ClinGen gnomAD |
|
|
rs766390758 CA8504922 |
116 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA290069512 rs1025113717 |
118 | M>I | No |
ClinGen TOPMed |
|
|
CA399138314 rs773708442 |
118 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 119 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1352894174 CA399138295 |
121 | V>L | No |
ClinGen gnomAD |
|
|
CA399138280 rs1281880495 |
123 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA399138269 rs1295650008 |
125 | Y>S | No |
ClinGen gnomAD |
|
|
CA290069500 rs926359179 |
126 | L>M | No |
ClinGen Ensembl |
|
|
rs768259519 CA8504915 |
131 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA8504914 rs748918869 |
136 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA290069464 rs17852912 |
137 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1269271203 CA399138186 |
138 | R>K | No |
ClinGen gnomAD |
|
|
rs769196917 CA8504912 |
139 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs946528890 CA290069456 |
140 | E>K | No |
ClinGen Ensembl |
|
|
rs781337837 CA8504910 |
141 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs781337837 CA399138166 RCV000595021 |
141 | D>G | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA399138156 rs1358563217 |
142 | E>D | No |
ClinGen TOPMed |
|
|
CA290069451 rs369522860 |
143 | Y>C | No |
ClinGen ESP gnomAD |
|
|
rs988442642 COSM705496 CA399138143 |
144 | S>C | lung Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs988442642 CA290069447 |
144 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA290069445 rs956055423 |
145 | I>M | No |
ClinGen TOPMed |
|
|
rs757097977 CA8504909 COSM3958229 |
145 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8504908 rs751442386 |
146 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1202727407 CA399138113 |
149 | S>F | No |
ClinGen TOPMed |
|
|
rs1567730898 RCV000732812 CA399138094 |
152 | W>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8504905 rs766411953 |
153 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA8504903 rs564816937 |
154 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8504904 COSM977987 rs564816937 |
154 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA399138076 rs1170433570 |
155 | F>L | No |
ClinGen gnomAD |
|
|
rs1444546690 CA399138064 |
157 | R>T | No |
ClinGen TOPMed |
|
|
CA399138060 rs1404083282 |
158 | A>T | No |
ClinGen gnomAD |
|
|
CA290069427 rs1042122765 |
163 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs903493307 CA290069429 |
163 | Y>H | No |
ClinGen TOPMed |
|
|
CA290069412 rs974295574 |
164 | P>A | No |
ClinGen Ensembl |
|
|
rs1407673450 CA399138014 |
165 | F>S | No |
ClinGen TOPMed |
|
|
CA399137982 rs1327793979 |
169 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 171 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202025715 CA290069402 |
172 | G>* | No |
ClinGen 1000Genomes |
|
|
rs923109489 CA399137956 |
173 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs923109489 CA290069398 |
173 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs762340754 CA8504900 |
175 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 176 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190158487 CA399137938 |
176 | V>I | No |
ClinGen gnomAD |
|
|
CA8504899 rs774653352 |
177 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
RCV000723018 rs1567730805 |
179 | L>missing | No |
ClinVar dbSNP |
|
|
CA8504897 rs762603832 |
179 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs745420734 CA399137911 |
180 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8504892 rs192653658 |
181 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1241662407 CA399137888 |
184 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 184 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373097667 CA8504890 |
188 | H>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754082338 CA8504887 |
196 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399137801 rs1597923100 |
198 | V>G | No |
ClinGen Ensembl |
|
|
rs368983576 CA8504886 |
198 | V>I | No |
ClinGen ESP ExAC |
|
|
CA399137797 rs1474150963 |
199 | Q>E | No |
ClinGen TOPMed |
|
|
CA8504884 rs750539552 |
200 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs758225297 CA290069274 |
202 | R>Q | No |
ClinGen gnomAD |
|
|
rs896156854 CA399137775 |
203 | L>R | No |
ClinGen gnomAD |
|
|
RCV000734692 rs1597923075 |
204 | T>missing | No |
ClinVar dbSNP |
|
|
RCV000171253 CA235961 rs786205502 |
206 | Q>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs786205502 CA399137761 |
206 | Q>K | No |
ClinGen gnomAD |
|
|
rs61752106 CA8504881 |
209 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs763285439 CA399137734 |
210 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763285439 CA8504879 |
210 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763285439 CA399137733 |
210 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8504878 rs187265849 |
212 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399137686 rs1405118353 |
217 | K>T | No |
ClinGen TOPMed |
|
|
CA290069222 rs376571044 |
218 | A>T | No |
ClinGen ESP |
|
|
rs776230088 CA8504875 |
223 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA290069183 rs984673169 |
224 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA399137626 rs1567730622 RCV000729373 |
226 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 226 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 227 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399137616 rs1428801230 |
227 | S>T | No |
ClinGen TOPMed |
|
|
rs1406586243 CA399137592 |
229 | S>N | No |
ClinGen TOPMed |
|
|
RCV000730872 rs968180697 CA290068489 |
230 | E>K | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1406752559 CA399137553 |
234 | S>L | No |
ClinGen gnomAD |
|
|
rs765654384 CA8504855 |
235 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 237 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290068473 rs980992759 |
240 | V>I | No |
ClinGen Ensembl |
|
|
rs139417458 CA399137512 |
241 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs965759382 CA290068433 |
242 | G>A | No |
ClinGen TOPMed |
|
|
CA8504852 rs765982515 |
242 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 243 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597922512 CA399137500 |
244 | A>T | No |
ClinGen Ensembl |
|
|
CA399137492 rs1364396743 |
245 | L>S | No |
ClinGen TOPMed |
|
|
rs773175740 CA8504849 |
246 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204653593 CA399137482 |
247 | L>P | No |
ClinGen gnomAD |
|
|
CA399137479 rs1270061036 |
248 | S>P | No |
ClinGen gnomAD |
|
|
CA8504847 rs371597789 |
249 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768447498 CA8504845 |
254 | G>R | No |
ClinGen ExAC gnomAD |
|
| rs1567729860 | 257 | F>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 259 | Q>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8504842 rs757306012 |
261 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567729830 CA399137373 |
264 | W>* | No |
ClinGen Ensembl |
|
|
rs758784930 CA8504838 |
266 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA399137356 rs1443972910 |
266 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1401183237 CA399137343 |
268 | E>D | No |
ClinGen TOPMed |
|
|
CA399137334 rs1597922449 |
269 | N>K | No |
ClinGen Ensembl |
|
|
rs569741823 RCV000728287 CA399137325 |
271 | E>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs569741823 CA8504837 |
271 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA399137311 rs1192800930 |
273 | I>V | No |
ClinGen gnomAD |
|
|
CA399137289 rs1249994630 |
276 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs202159096 CA290068270 |
277 | T>A | No |
ClinGen 1000Genomes |
|
|
CA399137280 rs1398163895 |
277 | T>I | No |
ClinGen TOPMed |
|
|
rs1201778660 CA399137279 |
278 | A>T | No |
ClinGen gnomAD |
|
|
rs1597922411 CA399137261 |
281 | T>A | No |
ClinGen Ensembl |
|
|
rs1279175625 CA399137254 |
282 | P>S | No |
ClinGen gnomAD |
|
|
CA8504834 rs753527027 |
283 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 289 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567729754 CA399137204 |
290 | Y>C | No |
ClinGen Ensembl |
|
|
rs749859287 CA8504831 |
291 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767070181 CA8504830 |
295 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs761590834 CA399137166 |
296 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 296 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761590834 CA8504829 |
296 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs768427035 CA8504827 |
297 | L>* | No |
ClinGen ExAC |
|
|
rs774415243 CA8504828 |
297 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762789314 CA8504826 |
298 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8504825 rs776806092 |
300 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373860467 CA399137125 |
302 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399137124 rs777654572 |
303 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8504822 rs777654572 |
303 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399137110 rs1444133628 |
305 | P>A | No |
ClinGen gnomAD |
|
|
CA8504818 rs779617735 |
308 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8504817 rs755371958 |
308 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8504816 rs780595864 |
311 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290068116 rs76127905 |
312 | V>L | No |
ClinGen Ensembl |
|
|
rs1366482320 CA399137057 |
314 | D>H | No |
ClinGen TOPMed |
|
|
rs1297202049 CA399137040 |
316 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8504814 rs750097322 |
316 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs766933745 CA8504813 |
318 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA399136982 rs1404979221 |
326 | Y>N | No |
ClinGen gnomAD |
|
|
rs751429784 CA8504810 |
327 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8504809 rs557834416 |
327 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1281789493 CA399136950 |
330 | F>L | No |
ClinGen TOPMed |
|
|
CA399136943 rs1182664646 |
331 | H>Q | No |
ClinGen gnomAD |
|
|
CA399136940 rs1483942313 |
332 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA399136919 rs1321937282 |
335 | S>R | No |
ClinGen gnomAD |
|
|
rs1291823697 CA399136907 |
336 | H>Q | No |
ClinGen TOPMed |
|
|
rs760739894 CA8504805 |
337 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288323994 CA399136875 |
341 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 341 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8504802 rs772028045 |
341 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399136869 rs1438187271 |
342 | T>I | No |
ClinGen TOPMed |
|
|
rs1410938416 CA399136857 |
344 | Y>F | No |
ClinGen gnomAD |
|
|
CA399136842 rs1301660172 |
347 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 349 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399136814 rs1457603950 |
350 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs928085463 CA290068062 |
354 | L>F | No |
ClinGen Ensembl |
|
|
rs1438983691 CA399136774 |
356 | S>F | No |
ClinGen TOPMed |
|
|
rs769244620 CA8504799 |
359 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs749833303 CA8504798 |
360 | N>R | No |
ClinGen ExAC gnomAD |
|
|
rs780501878 CA8504797 |
360 | N>W | No |
ClinGen ExAC gnomAD |
3 associated diseases with O00623
[MIM: 614859]: Peroxisome biogenesis disorder complementation group 3 (PBD-CG3)
A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are
[MIM: 614859]: Peroxisome biogenesis disorder 3A (PBD3A)
A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269|PubMed:17041890, ECO:0000269|PubMed:9090384, ECO:0000269|PubMed:9354782}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 266510]: Peroxisome biogenesis disorder 3B (PBD3B)
A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. {ECO:0000269|PubMed:10562279, ECO:0000269|PubMed:19105186, ECO:0000269|PubMed:26094004, ECO:0000269|PubMed:26947510, ECO:0000269|PubMed:33123925}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are
- A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269|PubMed:17041890, ECO:0000269|PubMed:9090384, ECO:0000269|PubMed:9354782}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. {ECO:0000269|PubMed:10562279, ECO:0000269|PubMed:19105186, ECO:0000269|PubMed:26094004, ECO:0000269|PubMed:26947510, ECO:0000269|PubMed:33123925}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for O00623
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Pex, N-terminal | 26 - 267 | IPR006845 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| integral component of peroxisomal membrane | The component of the peroxisomal membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| peroxisomal importomer complex | A protein complex responsible for transporting proteins into the peroxisomal matrix. An example of this complex is Pex14 found in S. cerevisae which has 9 core components and 12 transient interaction partners. |
| peroxisomal membrane | The lipid bilayer surrounding a peroxisome. |
| peroxisome | A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein C-terminus binding | Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| ubiquitin-protein transferase activity | Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages. |
| zinc ion binding | Binding to a zinc ion (Zn). |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| peroxisome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a peroxisome. A peroxisome is a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules. |
| protein import into peroxisome matrix | The import of proteins into the peroxisomal matrix. A peroxisome targeting signal (PTS) binds to a soluble receptor protein in the cytosol, and the resulting complex then binds to a receptor protein in the peroxisome membrane and is imported. The cargo protein is then released into the peroxisome matrix. |
| protein monoubiquitination | Addition of a single ubiquitin group to a protein. |
| protein targeting to peroxisome | The process of directing proteins towards the peroxisome, usually using signals contained within the protein. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9M841 | PEX12 | Peroxisome biogenesis protein 12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEHGAHFTA | ASVADDQPSI | FEVVAQDSLM | TAVRPALQHV | VKVLAESNPT | HYGFLWRWFD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EIFTLLDLLL | QQHYLSRTSA | SFSENFYGLK | RIVMGDTHKS | QRLASAGLPK | QQLWKSIMFL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VLLPYLKVKL | EKLVSSLREE | DEYSIHPPSS | RWKRFYRAFL | AAYPFVNMAW | EGWFLVQQLR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YILGKAQHHS | PLLRLAGVQL | GRLTVQDIQA | LEHKPAKASM | MQQPARSVSE | KINSALKKAV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GGVALSLSTG | LSVGVFFLQF | LDWWYSSENQ | ETIKSLTALP | TPPPPVHLDY | NSDSPLLPKM |
| 310 | 320 | 330 | 340 | 350 | |
| KTVCPLCRKT | RVNDTVLATS | GYVFCYRCVF | HYVRSHQACP | ITGYPTEVQH | LIKLYSPEN |