Q9Y5Y5
PR
Gene name |
PEX16 |
Protein name |
Peroxisomal membrane protein PEX16 |
Names |
Chemoattractant receptor-homologous molecule expressed on Th2 cells, G-protein coupled receptor 44, Peroxin-16, Peroxisomal biogenesis factor 16 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9409 |
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 Q9Y5Y5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y5Y5-F1 | Predicted | AlphaFoldDB |
318 variants for Q9Y5Y5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001235096 rs2086854813 |
12 | Q>K | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001302650 rs1427588700 |
35 | L>V | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
CA380229195 RCV001294680 rs1287709761 |
58 | V>M | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001348231 CA5960069 rs754220780 |
63 | G>R | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5960064 RCV001106662 rs143737124 |
66 | R>Q | Peroxisome biogenesis disorder 8A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM1353894 CA5960065 rs767624302 RCV001202629 |
66 | R>W | large_intestine Peroxisome biogenesis disorder Variant assessed as Somatic; 0.0006492 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA243335 RCV001079444 RCV000177215 rs149348130 RCV000766831 RCV000358606 |
68 | E>D | Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5960062 rs761652611 RCV001203478 |
69 | L>R | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs776600798 RCV001063577 CA5960061 |
70 | R>Q | Variant assessed as Somatic; 0.0 impact. Peroxisome biogenesis disorder [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10606641 rs886044340 RCV001850458 RCV000289858 |
70 | R>W | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA5960033 rs139930879 RCV001865827 RCV001335192 |
76 | S>L | Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001250061 CA5960028 RCV001087648 RCV000597515 rs567165324 |
88 | V>M | Peroxisome biogenesis disorder Peroxisome biogenesis disorder 8A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs11553094 CA5960022 RCV001071053 CA380228518 |
103 | V>L | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
VAR_051272 CA5960021 RCV001106661 RCV000248033 RCV000676061 rs11553094 RCV001523728 |
103 | V>M | Peroxisome biogenesis disorder Peroxisome biogenesis disorder 8A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001325839 rs374045163 RCV000592428 CA5960016 |
114 | A>T | Variant assessed as Somatic; 0.0 impact. Peroxisome biogenesis disorder [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001516101 RCV000988533 VAR_061841 RCV001788387 CA5960014 RCV001699497 RCV001788386 rs10742772 |
116 | V>I | Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 8B [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs754748410 RCV001855116 RCV000275304 CA5959986 |
124 | R>W | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs749891033 RCV001245054 |
140 | P>T | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5959980 RCV002567931 RCV001239398 rs761426585 |
141 | I>V | Peroxisome biogenesis disorder Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001105497 rs1357832796 |
152 | P>T | Peroxisome biogenesis disorder 8A (Zellweger) [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779813719 CA5959973 RCV001059359 |
153 | P>L | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs140695185 RCV001335193 RCV002532548 CA5959957 RCV001225566 RCV000763742 RCV000597243 |
154 | D>G | Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002530994 RCV001860158 CA380227469 RCV000596983 rs1394054374 |
158 | S>G | Peroxisome biogenesis disorder Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs774416603 RCV003132416 CA5959955 RCV001323669 |
159 | P>S | Variant assessed as Somatic; 0.0 impact. Peroxisome biogenesis disorder [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA5959950 RCV000595504 rs147332976 RCV001238544 RCV003160027 |
167 | V>M | Peroxisome biogenesis disorder Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000431832 RCV000006837 CA118288 RCV001851705 rs61752117 |
176 | R>* | Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000279051 CA10638665 CA380227219 rs886048327 |
180 | N>K | Peroxisome biogenesis disorder 8A (Zellweger) [ClinVar] | Yes |
ClinGen TOPMed gnomAD ClinVar dbSNP |
|
RCV001323742 rs751814237 |
185 | H>R | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000732924 rs761839307 RCV001855697 CA5959916 |
193 | Q>R | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001210758 rs557365860 CA5959915 |
195 | R>W | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001230642 RCV000594009 rs1319561377 CA380227104 |
198 | R>Q | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs774218187 RCV001201679 CA5959912 |
198 | R>W | Variant assessed as Somatic; 0.0 impact. Peroxisome biogenesis disorder [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5959899 RCV001105496 rs375515674 RCV001361646 |
206 | L>V | Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5959897 rs201173264 RCV000732103 RCV001237494 |
208 | A>V | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs754114296 RCV000337589 CA5959896 |
210 | P>S | Peroxisome biogenesis disorder 1A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000976367 rs201846257 RCV001252835 CA5959891 |
212 | P>R | Peroxisome biogenesis disorder Microcephaly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs773150003 CA5959889 RCV001340921 |
215 | L>V | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001343334 rs761544516 |
217 | E>D | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001066653 rs1403262719 |
217 | E>missing | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754024503 RCV001004854 CA5959878 |
227 | R>Q | Peroxisome biogenesis disorder 8A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1064794320 COSM927087 CA16619326 RCV000480123 RCV002525833 |
227 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium Peroxisome biogenesis disorder [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001103569 CA5959852 rs757071504 |
236 | G>R | Peroxisome biogenesis disorder 8A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001879771 rs753577538 CA5959851 RCV001250071 |
237 | L>R | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001103568 rs2086807349 |
244 | K>Q | Peroxisome biogenesis disorder 8A (Zellweger) [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_069208 | 252 | V>del | PBD8B [UniProt] | Yes | UniProt |
|
CA5959843 rs35214605 RCV000294744 RCV000845059 RCV000676059 RCV000549075 VAR_034145 |
254 | V>L | Peroxisome biogenesis disorder Peroxisome biogenesis disorder 8A (Zellweger) [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001859733 CA10606991 RCV000297741 rs886044625 |
268 | R>W | Variant assessed as Somatic; 0.0 impact. Peroxisome biogenesis disorder [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000732896 RCV001103567 CA5959815 rs769838583 RCV001346574 |
271 | R>Q | Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs777810731 CA5959816 RCV001297630 |
271 | R>W | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002553078 rs560024236 RCV001041244 CA5959814 |
272 | R>W | Peroxisome biogenesis disorder Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
RCV000731933 rs751273439 RCV001309995 CA5959810 |
274 | L>M | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA380226051 rs1383363053 RCV001043005 |
275 | R>Q | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs372815115 RCV001227812 CA5959809 |
275 | R>W | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001231365 rs762568886 CA380226036 |
276 | R>C | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs769772100 RCV001236014 RCV000680059 CA5959797 RCV003133504 RCV003152611 |
287 | R>C | Variant assessed as Somatic; 0.0 impact. Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder Peroxisome biogenesis disorder 8B [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_069209 | 289 | P>T | PBD8B [UniProt] | Yes | UniProt |
|
RCV001234426 RCV002494830 CA5959789 RCV000303460 RCV001108731 rs544053792 |
293 | R>C | Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs544053792 CA5959790 RCV001061364 |
293 | R>S | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002533108 RCV000729593 rs749785179 RCV002535124 CA5959763 |
308 | D>H | Peroxisome biogenesis disorder Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002546930 rs749785179 COSM4145719 RCV001341414 CA221584800 COSM4145720 |
308 | D>N | thyroid Variant assessed as Somatic; 0.0 impact. Peroxisome biogenesis disorder Inborn genetic diseases [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5959758 RCV001229660 rs747521980 |
313 | V>I | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs775371916 RCV001859807 CA5959756 RCV000270043 |
316 | V>I | Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001316388 rs758636115 CA5959723 |
321 | M>T | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000023293 rs1590793006 |
330 | I>missing | Peroxisome biogenesis disorder 8B [ClinVar] | Yes |
ClinVar dbSNP |
|
CA129142 VAR_069210 RCV000023295 rs397514472 |
331 | Y>C | Variant assessed as Somatic; impact. Peroxisome biogenesis disorder 8B PBD8B [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs797045062 RCV000191117 |
332 | F>missing | Peroxisome biogenesis disorder 8B [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5959716 rs767383372 RCV001225350 |
336 | G>R | Peroxisome biogenesis disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5960133 rs752282395 |
2 | E>K | No |
ClinGen ExAC |
|
|
rs768102300 CA5960132 |
5 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221592753 rs560563312 |
7 | L>M | No |
ClinGen 1000Genomes |
|
|
rs1369455274 CA380231199 |
9 | L>F | No |
ClinGen gnomAD |
|
|
CA380231028 rs1208897590 |
13 | E>D | No |
ClinGen gnomAD |
|
|
CA380231054 rs1448002468 |
13 | E>K | No |
ClinGen gnomAD |
|
|
CA380231035 rs1247033648 |
13 | E>V | No |
ClinGen gnomAD |
|
|
rs1465907513 CA380231016 |
14 | Y>C | No |
ClinGen gnomAD |
|
|
rs1209211567 CA380230999 |
15 | V>M | No |
ClinGen gnomAD |
|
|
rs1356940294 CA380230966 |
16 | T>I | No |
ClinGen gnomAD |
|
|
rs1590798145 CA380230959 |
17 | R>G | No |
ClinGen Ensembl |
|
|
CA380230944 rs766642380 |
17 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA5960129 rs766642380 |
17 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA380230911 rs1590798135 |
18 | H>P | No |
ClinGen Ensembl |
|
|
rs1225947523 CA380230883 |
19 | P>L | No |
ClinGen gnomAD |
|
|
rs867388348 CA221592706 |
20 | A>T | No |
ClinGen Ensembl |
|
|
CA380230848 rs1297158690 |
21 | A>T | No |
ClinGen gnomAD |
|
|
rs1436072125 CA380230835 |
21 | A>V | No |
ClinGen gnomAD |
|
|
rs1347076898 CA380230824 |
22 | T>M | No |
ClinGen gnomAD |
|
|
CA380230797 rs1321643413 |
24 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA380230783 rs1404788997 |
24 | Q>L | No |
ClinGen gnomAD |
|
|
rs1448054269 CA380230708 |
27 | T>I | No |
ClinGen gnomAD |
|
|
rs1165942477 CA380230720 |
27 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA380230686 rs1389927179 |
28 | A>G | No |
ClinGen gnomAD |
|
|
rs1476173698 CA380230648 |
30 | R>Q | No |
ClinGen gnomAD |
|
|
rs577456581 CA221592689 |
30 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1590798097 CA380230605 |
32 | F>L | No |
ClinGen Ensembl |
|
|
CA380230555 rs1451639995 |
33 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs139063232 CA5960114 |
39 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA380230278 rs1412626897 CA380230274 |
40 | F>L | No |
ClinGen gnomAD |
|
|
CA221592414 rs921969499 |
41 | A>S | No |
ClinGen gnomAD |
|
|
CA380230239 rs1396367948 |
42 | D>N | No |
ClinGen TOPMed |
|
|
rs1482183914 CA380230148 CA380230150 RCV000728947 |
44 | H>Q | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1039073087 CA221592404 |
44 | H>Y | No |
ClinGen Ensembl |
|
|
CA380230121 rs1167552693 |
45 | E>D | No |
ClinGen TOPMed |
|
|
COSM3979655 CA380230138 rs1565082818 COSM3979654 |
45 | E>Q | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs752110548 CA5960111 |
47 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA5960075 rs746462261 |
52 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1350322022 CA380229241 |
53 | A>T | No |
ClinGen gnomAD |
|
|
CA380229231 rs1438814863 |
53 | A>V | No |
ClinGen gnomAD |
|
|
rs779628910 CA5960074 |
54 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5960072 rs746381331 CA380229212 |
55 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380229211 rs1393589153 |
56 | L>M | No |
ClinGen TOPMed |
|
|
rs1224855761 CA380229202 |
57 | L>F | No |
ClinGen gnomAD |
|
|
CA380229191 rs1287709761 |
58 | V>L | No |
ClinGen gnomAD |
|
|
rs1565082211 CA380229154 |
61 | N>S | No |
ClinGen Ensembl |
|
|
CA380229134 rs757594159 |
62 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471005897 CA380229098 |
65 | L>P | No |
ClinGen gnomAD |
|
|
rs374895823 CA5960063 |
68 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5960060 rs372430984 |
71 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs886957873 CA221591236 |
72 | K>N | No |
ClinGen gnomAD |
|
|
rs775069669 CA5960058 |
74 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590797106 CA380228981 |
75 | V>G | No |
ClinGen Ensembl |
|
|
rs1428173747 CA380228952 |
76 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 77 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 78 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380228890 rs1244471687 |
80 | Q>E | No |
ClinGen gnomAD |
|
|
CA5960029 rs780266965 |
87 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764174581 CA5960026 |
92 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221590729 rs866804667 |
93 | E>D | No |
ClinGen Ensembl |
|
|
rs1426191993 CA380228621 |
96 | M>T | No |
ClinGen TOPMed |
|
|
rs1169018412 CA380228576 |
98 | M>I | No |
ClinGen TOPMed |
|
|
CA5960025 rs755886932 |
98 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 99 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273125848 CA380228533 |
101 | A>V | No |
ClinGen gnomAD |
|
|
CA5960020 rs765872761 |
104 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs557467152 CA380228513 |
104 | W>G | No |
ClinGen gnomAD |
|
|
CA221590684 rs557467152 |
104 | W>R | No |
ClinGen gnomAD |
|
|
rs1329209751 CA380228491 |
107 | V>A | No |
ClinGen gnomAD |
|
|
rs17856002 CA221590668 |
107 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5960019 rs17856002 |
107 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs779016766 CA5960018 |
109 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380228483 rs779016766 |
109 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs975471447 CA221590650 COSM1675958 |
109 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA5960017 rs184580714 |
111 | L>F | No |
ClinGen 1000Genomes ExAC |
|
|
rs879323438 CA221590637 |
114 | A>V | No |
ClinGen Ensembl |
|
|
CA380228413 rs1431364536 |
120 | K>M | No |
ClinGen gnomAD |
|
|
CA380228414 rs1431364536 |
120 | K>R | No |
ClinGen gnomAD |
|
|
rs751381531 CA5959985 |
124 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221590401 rs17849318 |
125 | M>I | No |
ClinGen Ensembl |
|
|
CA380228367 rs1474077236 |
126 | L>P | No |
ClinGen TOPMed |
|
|
CA221590394 rs929811753 |
133 | A>V | No |
ClinGen TOPMed |
|
|
RCV000734419 CA380228285 rs1417399456 |
139 | P>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA5959982 rs749891033 |
140 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764641368 CA380228280 |
140 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764641368 CA5959981 |
140 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749891033 CA221590377 |
140 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 142 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764718228 CA5959978 |
142 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1445442724 CA380228258 |
144 | L>P | No |
ClinGen gnomAD |
|
|
rs775998638 CA5959976 |
146 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA380228237 rs1485548592 |
147 | E>A | No |
ClinGen gnomAD |
|
|
CA5959975 rs772360222 |
150 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380228186 rs1218545995 |
151 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA5959974 rs759815163 |
152 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1357832796 CA380228168 |
152 | P>S | No |
ClinGen gnomAD |
|
| rs1406562067 | 154 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5959956 rs759988037 |
156 | D>H | No |
ClinGen ExAC |
|
|
CA380227445 rs1461646589 |
159 | P>L | No |
ClinGen gnomAD |
|
|
rs771211079 CA5959954 |
162 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA380227410 rs1565081279 |
162 | H>Y | No |
ClinGen Ensembl |
|
|
CA5959952 rs773347735 |
164 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199956751 CA221588377 |
164 | Q>R | No |
ClinGen 1000Genomes |
|
|
rs768523500 CA5959951 |
165 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1318530244 CA380227378 |
166 | Y>C | No |
ClinGen gnomAD |
|
|
CA221588330 rs147332976 |
167 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380227344 rs1481661099 |
169 | K>N | No |
ClinGen gnomAD |
|
|
CA380227350 rs1359522114 |
169 | K>R | No |
ClinGen TOPMed |
|
|
CA5959949 rs775473862 |
170 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1053995048 CA221588315 |
170 | R>W | No |
ClinGen TOPMed |
|
|
rs1252660802 CA380227304 |
173 | R>Q | No |
ClinGen gnomAD |
|
|
CA380227305 rs1480768145 |
173 | R>W | No |
ClinGen gnomAD |
|
|
rs771831186 CA5959948 |
176 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5959947 rs745696605 |
177 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA380227242 rs1447178623 |
179 | Q>* | No |
ClinGen TOPMed |
|
|
rs778389525 CA5959946 |
181 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5959923 rs375900051 COSM1353892 |
181 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755516862 CA5959922 |
182 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751814237 CA5959921 |
185 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA380227184 rs1191675998 |
185 | H>Y | No |
ClinGen TOPMed |
|
|
CA5959919 rs750614956 |
188 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA5959918 rs750614956 |
188 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1315917093 CA380227164 |
188 | H>Y | No |
ClinGen gnomAD |
|
|
rs1324749308 CA380227157 |
189 | W>* | No |
ClinGen gnomAD |
|
|
rs1318325621 CA380227154 |
189 | W>* | No |
ClinGen gnomAD |
|
|
CA5959917 rs765466211 |
190 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301708552 CA380227146 |
191 | A>T | No |
ClinGen gnomAD |
|
|
CA221588056 rs141267636 COSM109757 |
192 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1424342604 CA380227138 |
192 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA380227126 rs1164622212 |
194 | Q>* | No |
ClinGen gnomAD |
|
|
rs1237017887 CA380227124 |
194 | Q>R | No |
ClinGen TOPMed |
|
|
CA380227118 rs959280173 |
195 | R>L | No |
ClinGen gnomAD |
|
|
rs959280173 CA221588054 |
195 | R>Q | No |
ClinGen gnomAD |
|
|
CA380227112 CA5959913 rs759501669 |
196 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5959914 rs767299660 |
196 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1489243124 CA380227110 |
197 | G>R | No |
ClinGen gnomAD |
|
|
CA5959911 rs770726448 |
199 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380227099 rs1292855633 |
199 | Q>R | No |
ClinGen gnomAD |
|
|
rs762887312 CA5959910 |
200 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs772953974 CA5959909 |
200 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs35874263 CA221588007 |
201 | Q>H | No |
ClinGen gnomAD |
|
|
rs1281863580 CA380227077 |
202 | H>P | No |
ClinGen gnomAD |
|
|
CA5959905 rs747599205 |
203 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5959903 rs537046144 |
203 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780865953 CA5959904 |
203 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs368553807 CA5959901 |
204 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 207 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1480680565 CA380227033 |
209 | T>I | No |
ClinGen gnomAD |
|
|
CA5959895 rs565706311 |
210 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5959893 rs751488634 RCV000728457 |
211 | T>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA380227024 rs1590795841 |
211 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 211 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766253527 CA5959892 |
212 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766253527 CA380227021 |
212 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 213 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380227008 rs1276994889 |
214 | G>E | No |
ClinGen gnomAD |
|
|
CA380226993 rs1329046702 |
217 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 217 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA221587901 rs201706413 |
218 | T>A | No |
ClinGen Ensembl |
|
|
rs1175669602 CA380226981 |
218 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1175301012 CA380226971 COSM927088 |
220 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs368365098 CA5959884 |
222 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1565080947 CA380226948 |
223 | L>F | No |
ClinGen Ensembl |
|
|
rs772570363 CA5959882 |
223 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1434495944 CA380226936 |
225 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs779235562 CA5959880 |
225 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 226 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380226927 rs1203060168 |
226 | A>V | No |
ClinGen gnomAD |
|
|
COSM75910 CA221587851 rs943381202 |
228 | P>L | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA5959876 rs756167148 |
229 | L>P | No |
ClinGen ExAC TOPMed |
|
|
CA380226872 rs755175843 |
234 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA5959855 rs755175843 |
234 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5959853 rs765315257 |
235 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213433620 CA380226848 |
238 | W>* | No |
ClinGen gnomAD |
|
|
rs1279952356 CA380226775 |
242 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1364730132 CA380226718 |
245 | P>L | No |
ClinGen gnomAD |
|
|
CA380226679 rs1168468446 |
249 | A>D | No |
ClinGen gnomAD |
|
|
rs1351786258 CA380226686 |
249 | A>T | No |
ClinGen gnomAD |
|
|
rs759092071 CA5959846 |
251 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380226659 RCV000730988 rs1427929385 |
251 | V>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA380226651 rs1196458477 |
252 | V>M | No |
ClinGen gnomAD |
|
|
CA5959844 rs35214605 |
254 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1192086681 CA380226591 |
255 | T>S | No |
ClinGen gnomAD |
|
|
CA380226569 rs1489274568 |
256 | S>N | No |
ClinGen gnomAD |
|
|
CA380226440 rs1267100244 |
257 | L>R | No |
ClinGen TOPMed |
|
|
CA5959822 rs776946205 |
258 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380226409 rs1031968916 |
258 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA380226383 rs769033920 |
260 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380226341 rs1473757281 |
261 | S>R | No |
ClinGen gnomAD |
|
|
CA380226301 rs1167917803 |
263 | R>K | No |
ClinGen TOPMed |
|
|
CA221587439 rs764696866 |
265 | G>S | No |
ClinGen Ensembl |
|
|
CA380226222 rs1590795359 |
267 | T>P | No |
ClinGen Ensembl |
|
|
COSM3383481 CA5959819 rs376763841 COSM3383480 |
268 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1202074085 CA380226192 |
269 | R>G | No |
ClinGen gnomAD |
|
|
rs772259770 CA5959818 |
269 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749149149 CA5959817 |
269 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs772259770 CA221587425 |
269 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406601120 CA380226139 |
270 | E>D | No |
ClinGen TOPMed |
|
|
RCV000320043 CA10604953 rs769838583 |
271 | R>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA221587379 rs560024236 |
272 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs780754678 CA5959812 |
272 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248898876 CA380226076 |
273 | E>D | No |
ClinGen gnomAD |
|
|
rs190738287 CA5959811 |
273 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5959808 rs762568886 |
276 | R>G | No |
ClinGen ExAC |
|
|
CA380226031 rs1420647698 |
276 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5959807 rs542844862 |
277 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA16044063 rs1381800210 |
277 | R>W | No |
ClinGen gnomAD |
|
|
rs765797303 CA5959806 |
278 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380225998 rs765797303 |
278 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000732054 rs1255335729 CA380225970 |
279 | I>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA5959801 rs199767958 |
282 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA380225865 rs1258301933 |
283 | Y>* | No |
ClinGen Ensembl |
|
|
rs745978396 CA5959799 |
283 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1007452498 CA221587283 |
284 | Y>C | No |
ClinGen TOPMed |
|
|
CA5959798 rs777528117 |
286 | L>P | No |
ClinGen ExAC TOPMed |
|
|
CA380225820 rs1355804755 |
287 | R>H | Variant assessed as Somatic; 4.664e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs780955218 CA5959795 |
289 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380225798 rs1325230650 |
289 | P>L | No |
ClinGen gnomAD |
|
|
CA380225775 rs1401041189 |
290 | F>L | No |
ClinGen gnomAD |
|
|
rs1132349 CA221587195 CA221587197 |
291 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757797918 CA5959792 |
292 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5959791 rs757797918 RCV000730124 |
292 | D>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs780466184 CA5959788 |
293 | R>H | No |
ClinGen ExAC gnomAD |
|
| rs200415017 | 295 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380225680 rs1459984714 |
296 | E>K | No |
ClinGen gnomAD |
|
|
CA5959768 rs552589664 |
297 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA221584819 rs887278864 |
298 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1056666029 CA380224687 |
298 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA380224682 rs1456908077 |
299 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 300 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764720206 CA5959767 |
302 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5959766 rs756506038 |
303 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1277066680 CA380224607 |
304 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA380224605 rs1277066680 |
304 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA380224583 rs1302731823 |
305 | L>F | No |
ClinGen TOPMed |
|
|
CA380224530 rs1375624052 |
309 | H>D | No |
ClinGen gnomAD |
|
|
CA5959762 rs774505361 |
309 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 310 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA221584785 rs771392114 |
310 | V>I | No |
ClinGen Ensembl |
|
|
rs763069777 CA5959760 |
311 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771827506 CA5959755 |
317 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 318 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000484315 rs754790425 |
319 | P>missing | No |
ClinVar dbSNP |
|
|
rs563691692 CA5959727 |
319 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA221584236 rs886850783 |
321 | M>V | No |
ClinGen Ensembl |
|
|
CA380223484 rs1330845118 |
322 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 323 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380223400 rs1477736687 |
326 | T>S | No |
ClinGen gnomAD |
|
|
CA380223340 rs1306147163 |
328 | Q>* | No |
ClinGen TOPMed |
|
|
rs1196225720 CA380223263 |
330 | I>M | No |
ClinGen gnomAD |
3 associated diseases with Q9Y5Y5
[MIM: 614876]: Peroxisome biogenesis disorder complementation group 9 (PBD-CG9)
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: 614876]: Peroxisome biogenesis disorder 8A (PBD8A)
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:9837814}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 614877]: Peroxisome biogenesis disorder 8B (PBD8B)
A relatively mild peroxisome biogenesis disorder. Affected individuals manifest lower limb spasticity and ataxia resulting in wheelchair dependence. Other features include optic atrophy, cataracts, dysarthria, dysphagia, constipation, and a peripheral demyelinating motor and sensory neuropathy. Cognition is relatively preserved. Biochemical abnormalities are mild and include increased very-long-chain fatty acids (VLCFA), increased bile acid intermediates, and increased branched chain fatty acids. Phytanic acid alpha-oxidation, pristanic acid beta-oxidation, and red cell plasmalogen are normal. {ECO:0000269|PubMed:20647552}. 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:9837814}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A relatively mild peroxisome biogenesis disorder. Affected individuals manifest lower limb spasticity and ataxia resulting in wheelchair dependence. Other features include optic atrophy, cataracts, dysarthria, dysphagia, constipation, and a peripheral demyelinating motor and sensory neuropathy. Cognition is relatively preserved. Biochemical abnormalities are mild and include increased very-long-chain fatty acids (VLCFA), increased bile acid intermediates, and increased branched chain fatty acids. Phytanic acid alpha-oxidation, pristanic acid beta-oxidation, and red cell plasmalogen are normal. {ECO:0000269|PubMed:20647552}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9Y5Y5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9Y5Y5 | |||
7 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. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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. |
1 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. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| ER-dependent peroxisome localization | A process in which a protein is transported to, or maintained at, a location in a peroxisome via the endoplasmic reticulum. |
| ER-dependent peroxisome organization | A process of peroxisome organization in which assembly or arrangement of constituent parts takes place in the endoplasmic reticulum. |
| peroxisome membrane biogenesis | The process in which a peroxisome membrane is synthesized, aggregates, and bonds together. |
| 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 import into peroxisome membrane | The targeting of proteins into the peroxisomal membrane. The process is not well understood, but both signals and mechanism differ from those involved in peroxisomal matrix protein import. |
| protein targeting to peroxisome | The process of directing proteins towards the peroxisome, usually using signals contained within the protein. |
| protein to membrane docking | The initial attachment of a protein to a target membrane, mediated by a proteins protruding from the target membrane. Docking requires only that the proteins come close enough to interact and adhere. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEKLRLLGLR | YQEYVTRHPA | ATAQLETAVR | GFSYLLAGRF | ADSHELSELV | YSASNLLVLL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NDGILRKELR | KKLPVSLSQQ | KLLTWLSVLE | CVEVFMEMGA | AKVWGEVGRW | LVIALVQLAK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AVLRMLLLLW | FKAGLQTSPP | IVPLDRETQA | QPPDGDHSPG | NHEQSYVGKR | SNRVVRTLQN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TPSLHSRHWG | APQQREGRQQ | QHHEELSATP | TPLGLQETIA | EFLYIARPLL | HLLSLGLWGQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RSWKPWLLAG | VVDVTSLSLL | SDRKGLTRRE | RRELRRRTIL | LLYYLLRSPF | YDRFSEARIL |
| 310 | 320 | 330 | |||
| FLLQLLADHV | PGVGLVTRPL | MDYLPTWQKI | YFYSWG |