Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PET117 | Human | mitochondrial complex IV deficiency nuclear type 19 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PET117 | Human | mitochondrial complex IV deficiency nuclear type 19 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:12975309 | PMID:21873635 | PMID:22356826 | PMID:28199844 | PMID:28386624 | PMID:30232004 | PMID:34373451 |
PET117 (Homo sapiens - human) |
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Pet117 (Mus musculus - house mouse) |
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Pet117 (Rattus norvegicus - Norway rat) |
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Pet117 (Chinchilla lanigera - long-tailed chinchilla) |
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LOC103784797 (Pan paniscus - bonobo/pygmy chimpanzee) |
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LOC100688040 (Canis lupus familiaris - dog) |
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LOC106144621 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PET117 (Sus scrofa - pig) |
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LOC103214828 (Chlorocebus sabaeus - green monkey) |
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Pet117 (Heterocephalus glaber - naked mole-rat) |
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Variants in PET117
9 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 | copy number gain | See cases [RCV000051227] | Chr20:89939..25697564 [GRCh38] Chr20:70580..25678200 [GRCh37] Chr20:18580..25626200 [NCBI36] Chr20:20p13-11.21 |
pathogenic |
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 | copy number gain | See cases [RCV000051041] | Chr20:89939..19146279 [GRCh38] Chr20:70580..19126923 [GRCh37] Chr20:18580..19074923 [NCBI36] Chr20:20p13-11.23 |
pathogenic |
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 | copy number gain | See cases [RCV000052999] | Chr20:9811433..39316956 [GRCh38] Chr20:9792081..37945599 [GRCh37] Chr20:9740081..37379013 [NCBI36] Chr20:20p12.2-q12 |
pathogenic |
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 | copy number gain | See cases [RCV000052995] | Chr20:89939..19071495 [GRCh38] Chr20:70580..19052139 [GRCh37] Chr20:18580..19000139 [NCBI36] Chr20:20p13-11.23 |
pathogenic |
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] | Chr20:89939..21787252 [GRCh38] Chr20:70580..21767890 [GRCh37] Chr20:18580..21715890 [NCBI36] Chr20:20p13-11.22 |
pathogenic |
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 | copy number gain | See cases [RCV000133996] | Chr20:80106..30227427 [GRCh38] Chr20:60747..29462103 [GRCh37] Chr20:8747..28075764 [NCBI36] Chr20:20p13-q11.1 |
pathogenic |
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 | copy number gain | See cases [RCV000135859] | Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33 |
pathogenic |
GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1 | copy number loss | See cases [RCV000135439] | Chr20:17772771..21426789 [GRCh38] Chr20:17753416..21407427 [GRCh37] Chr20:17701416..21355427 [NCBI36] Chr20:20p12.1-11.22 |
pathogenic |
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 | copy number gain | See cases [RCV000142017] | Chr20:80927..26324843 [GRCh38] Chr20:61568..26305479 [GRCh37] Chr20:9568..26253479 [NCBI36] Chr20:20p13-11.1 |
pathogenic |
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 | copy number gain | See cases [RCV000143426] | Chr20:80928..18688031 [GRCh38] Chr20:61569..18668675 [GRCh37] Chr20:9569..18616675 [NCBI36] Chr20:20p13-11.23 |
pathogenic |
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 | copy number gain | See cases [RCV000239954] | Chr20:80198..26075841 [GRCh37] Chr20:20p13-11.1 |
pathogenic |
GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3 | copy number gain | See cases [RCV000240436] | Chr20:17705775..31600738 [GRCh37] Chr20:20p12.1-q11.21 |
pathogenic |
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 | copy number gain | not provided [RCV000487461] | Chr20:80198..26208081 [GRCh37] Chr20:20p13-q11.21 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 | copy number gain | See cases [RCV000510832] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) | copy number gain | See cases [RCV000512450] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
Single allele | duplication | not provided [RCV000677978] | Chr20:17705775..31600738 [GRCh37] Chr20:20p12.1-q11.21 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 | copy number gain | not provided [RCV000741059] | Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 | copy number gain | not provided [RCV000741057] | Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 | copy number gain | not provided [RCV000741058] | Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1 | copy number loss | not provided [RCV001007080] | Chr20:8571696..22088650 [GRCh37] Chr20:20p12.3-11.22 |
pathogenic |
NM_001164811.2(PET117):c.157C>G (p.Arg53Gly) | single nucleotide variant | not provided [RCV000900182] | Chr20:18142268 [GRCh38] Chr20:18122912 [GRCh37] Chr20:20p11.23 |
benign |
GRCh37/hg19 20p12.2-11.23(chr20:11716825-19331055) | copy number gain | not provided [RCV000767743] | Chr20:11716825..19331055 [GRCh37] Chr20:20p12.2-11.23 |
pathogenic |
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 | copy number gain | not provided [RCV001007068] | Chr20:61568..26305479 [GRCh37] Chr20:20p13-11.1 |
pathogenic |
NM_001164811.2(PET117):c.172C>T (p.Gln58Ter) | single nucleotide variant | Mitochondrial complex 4 deficiency, nuclear type 19 [RCV001260985] | Chr20:18142283 [GRCh38] Chr20:18122927 [GRCh37] Chr20:20p11.23 |
pathogenic|likely pathogenic |
GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3 | copy number gain | not provided [RCV001795841] | Chr20:11702911..19179706 [GRCh37] Chr20:20p12.2-11.23 |
uncertain significance |
NC_000020.10:g.(?_17587682)_(18168103_?)del | deletion | not provided [RCV003122983] | Chr20:17587682..18168103 [GRCh37] Chr20:20p12.1-11.23 |
pathogenic |
NM_001164811.2(PET117):c.139C>T (p.Arg47Trp) | single nucleotide variant | not specified [RCV004191694] | Chr20:18142250 [GRCh38] Chr20:18122894 [GRCh37] Chr20:20p11.23 |
uncertain significance |
NM_001164811.2(PET117):c.157C>T (p.Arg53Cys) | single nucleotide variant | not specified [RCV004206409] | Chr20:18142268 [GRCh38] Chr20:18122912 [GRCh37] Chr20:20p11.23 |
uncertain significance |
NM_001164811.2(PET117):c.208G>A (p.Glu70Lys) | single nucleotide variant | not specified [RCV004272110] | Chr20:18142319 [GRCh38] Chr20:18122963 [GRCh37] Chr20:20p11.23 |
uncertain significance |
NM_001164811.2(PET117):c.31C>T (p.Leu11Phe) | single nucleotide variant | not specified [RCV004277169] | Chr20:18137986 [GRCh38] Chr20:18118630 [GRCh37] Chr20:20p11.23 |
uncertain significance |
GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3 | copy number gain | Renal agenesis [RCV003327640] | Chr20:87153..23635465 [GRCh38] Chr20:20p13-11.21 |
pathogenic |
NM_001164811.2(PET117):c.104G>C (p.Arg35Pro) | single nucleotide variant | not specified [RCV004360202] | Chr20:18142215 [GRCh38] Chr20:18122859 [GRCh37] Chr20:20p11.23 |
uncertain significance |
NM_001164811.2(PET117):c.63C>T (p.Ala21=) | single nucleotide variant | not provided [RCV003431265] | Chr20:18138018 [GRCh38] Chr20:18118662 [GRCh37] Chr20:20p11.23 |
likely benign |
NM_001392073.1(KAT14):c.253C>T (p.Pro85Ser) | single nucleotide variant | not provided [RCV003431266] | Chr20:18142913 [GRCh38] Chr20:18123557 [GRCh37] Chr20:20p11.23 |
uncertain significance |
NC_000020.10:g.16400000_24400000del | deletion | Hyperinsulinemic hypoglycemia, familial, 1 [RCV003992661] | Chr20:16400000..24400000 [GRCh37] Chr20:20p12.1-11.21 |
pathogenic |
NM_001164811.2(PET117):c.6T>C (p.Ser2=) | single nucleotide variant | PET117-related condition [RCV003917331] | Chr20:18137961 [GRCh38] Chr20:18118605 [GRCh37] Chr20:20p11.23 |
likely benign |
GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3 | copy number gain | not provided [RCV003885495] | Chr20:68351..23860313 [GRCh37] Chr20:20p13-11.21 |
pathogenic |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
STS-N40959 |
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D20S1140 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 566 | 85 | 538 | 70 | 260 | 68 | 475 | 278 | 971 | 158 | 400 | 516 | 18 | 1 | 35 | 139 | 5 | 1 |
Low | 1873 | 2702 | 1188 | 554 | 1498 | 397 | 3882 | 1908 | 2763 | 260 | 1060 | 1097 | 156 | 1169 | 2649 | 1 | 1 | |
Below cutoff | 193 | 181 | 10 | 1 |
RefSeq Acc Id: | ENST00000432901 ⟹ ENSP00000397881 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001164811 ⟹ NP_001158283 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001158283 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAQ89029 | (Get FASTA) | NCBI Sequence Viewer |
CAI93430 | (Get FASTA) | NCBI Sequence Viewer | |
CCO13715 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000397881 | ||
ENSP00000397881.2 | |||
GenBank Protein | Q6UWS5 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001158283 ⟸ NM_001164811 |
- Peptide Label: | precursor |
- UniProtKB: | Q6UWS5 (UniProtKB/Swiss-Prot), L0R6F6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000397881 ⟸ ENST00000432901 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q6UWS5-F1-model_v2 | AlphaFold | Q6UWS5 | 1-81 | view protein structure |
RGD ID: | 13206447 | ||||||||
Promoter ID: | EPDNEW_H26803 | ||||||||
Type: | initiation region | ||||||||
Name: | PET117_1 | ||||||||
Description: | PET117 homolog | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:40045 | AgrOrtholog |
COSMIC | PET117 | COSMIC |
Ensembl Genes | ENSG00000232838 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000432901 | ENTREZGENE |
ENST00000432901.4 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000232838 | GTEx |
HGNC ID | HGNC:40045 | ENTREZGENE |
Human Proteome Map | PET117 | Human Proteome Map |
InterPro | Pet117 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | hsa:100303755 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | PET117 | ENTREZGENE |
OMIM | 614771 | OMIM |
PANTHER | PROTEIN PET117 HOMOLOG, MITOCHONDRIAL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR28163 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | PET117 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA166049064 | PharmGKB |
UniProt | L0R6F6 | ENTREZGENE, UniProtKB/TrEMBL |
PT117_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2019-03-19 | PET117 | PET117 cytochrome c oxidase chaperone | PET117 homolog | Symbol and/or name change | 5135510 | APPROVED | |
2015-07-14 | PET117 | PET117 homolog | PET117 homolog (S. cerevisiae) | Symbol and/or name change | 5135510 | APPROVED |