REEP1 receptor accessory protein 1

Information
Symbol
REEP1
Type
protein-coding
Description
receptor accessory protein 1
Entrez Gene ID
65055
Genome
hg19
Position
chr2:86,441,116-86,564,749
Genome
hg38
Position
chr2:86,213,993-86,337,626
MIM
609139 OMIM
HGNC
HGNC:25786 HGNC
Ensembl
ENSG00000068615 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 94
Likely pathogenic 0 50
Benign 4 112
Likely benign 0 180
Conflicting classifications of pathogenicity 0 32
Uncertain significance 0 334
Ranking
ClinVar
0
0
144
586
16
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 C2orf23
SYNONYM DSMA6
SYNONYM HMN5B
SYNONYM HMND12
SYNONYM HMNR6
SYNONYM SPG31
SYNONYM Yip2a
MIM 609139 OMIM
HGNC HGNC:25786 HGNC
Ensembl ENSG00000068615 Ensembl
AllianceGenome HGNC:25786
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000643817.2 hg38 chr2 86,215,618 86,337,654 122,037
ENST00000692664.1 hg38 chr2 86,215,039 86,337,626 122,588
ENST00000691093.1 hg38 chr2 86,215,039 86,337,632 122,594
ENST00000453231.6 hg38 chr2 86,216,794 86,338,083 121,290
ENST00000688400.1 hg38 chr2 86,215,064 86,337,510 122,447
ENST00000689156.1 hg38 chr2 86,215,096 86,337,644 122,549
ENST00000691703.1 hg38 chr2 86,216,840 86,337,654 120,815
ENST00000535845.6 hg38 chr2 86,216,554 86,337,627 121,074
ENST00000165698.9 hg38 chr2 86,213,993 86,337,654 123,662
ENST00000541910.6 hg38 chr2 86,216,581 86,337,589 121,009
ENST00000686220.1 hg38 chr2 86,215,068 86,337,626 122,559
ENST00000538924.7 hg38 chr2 86,213,993 86,337,626 123,634
ENST00000165698.9 hg19 chr2 86,441,116 86,564,777 123,662
ENST00000538924.7 hg19 chr2 86,441,116 86,564,749 123,634
ENST00000453231.6 hg19 chr2 86,443,917 86,565,206 121,290
ENST00000535845.6 hg19 chr2 86,443,677 86,564,750 121,074
ENST00000541910.6 hg19 chr2 86,443,704 86,564,712 121,009
ENST00000643817.2 hg19 chr2 86,442,741 86,564,777 122,037
ENST00000686220.1 hg19 chr2 86,442,191 86,564,749 122,559
ENST00000688400.1 hg19 chr2 86,442,187 86,564,633 122,447
ENST00000689156.1 hg19 chr2 86,442,219 86,564,767 122,549
ENST00000691093.1 hg19 chr2 86,442,162 86,564,755 122,594
ENST00000691703.1 hg19 chr2 86,443,963 86,564,777 120,815
ENST00000692664.1 hg19 chr2 86,442,162 86,564,749 122,588
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