COX4I1 cytochrome c oxidase subunit 4I1

Information
Symbol
COX4I1
Type
protein-coding
Description
cytochrome c oxidase subunit 4I1
Entrez Gene ID
1327
Genome
hg19
Position
chr16:85,833,299-85,840,650
Genome
hg38
Position
chr16:85,799,693-85,807,044
MIM
123864 OMIM
HGNC
HGNC:2265 HGNC
Ensembl
ENSG00000131143 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Benign 0 8
Likely benign 0 6
Uncertain significance 0 26
Ranking
ClinVar
0
0
4
34
4
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM COX IV-1
SYNONYM COX4
SYNONYM COX4-1
SYNONYM COXIV
SYNONYM COXIV-1
SYNONYM MC4DN16
MIM 123864 OMIM
HGNC HGNC:2265 HGNC
Ensembl ENSG00000131143 Ensembl
AllianceGenome HGNC:2265
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000562336.5 hg38 chr16 85,799,693 85,807,044 7,352
ENST00000568794.5 hg38 chr16 85,799,683 85,806,805 7,123
ENST00000561569.5 hg38 chr16 85,799,697 85,807,002 7,306
ENST00000564903.1 hg38 chr16 85,801,202 85,806,968 5,767
ENST00000253452.8 hg38 chr16 85,799,695 85,807,068 7,374
ENST00000564903.1 hg19 chr16 85,834,808 85,840,574 5,767
ENST00000562336.5 hg19 chr16 85,833,299 85,840,650 7,352
ENST00000253452.8 hg19 chr16 85,833,301 85,840,674 7,374
ENST00000561569.5 hg19 chr16 85,833,303 85,840,608 7,306
ENST00000568794.5 hg19 chr16 85,833,289 85,840,411 7,123
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