BIN1 bridging integrator 1

Information
Symbol
BIN1
Type
protein-coding
Description
bridging integrator 1
Entrez Gene ID
274
Genome
hg19
Position
chr2:127,805,608-127,864,730
Genome
hg38
Position
chr2:127,048,032-127,107,154
MIM
601248 OMIM
HGNC
HGNC:1052 HGNC
Ensembl
ENSG00000136717 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 8
Benign 21 150
Likely benign 0 560
Conflicting classifications of pathogenicity 0 82
Uncertain significance 0 590
Ranking
ClinVar
0
0
196
1,088
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
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 AMPH2
SYNONYM AMPHL
SYNONYM CNM2
SYNONYM SH3P9
MIM 601248 OMIM
HGNC HGNC:1052 HGNC
Ensembl ENSG00000136717 Ensembl
AllianceGenome HGNC:1052
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000409400.1 hg38 chr2 127,048,038 127,107,278 59,241
ENST00000348750.8 hg38 chr2 127,048,027 127,107,288 59,262
ENST00000393041.7 hg38 chr2 127,048,027 127,107,288 59,262
ENST00000393040.7 hg38 chr2 127,048,027 127,107,288 59,262
ENST00000346226.7 hg38 chr2 127,048,027 127,107,288 59,262
ENST00000351659.7 hg38 chr2 127,048,027 127,107,288 59,262
ENST00000357970.7 hg38 chr2 127,048,027 127,107,288 59,262
ENST00000352848.8 hg38 chr2 127,048,032 127,107,154 59,123
ENST00000316724.10 hg38 chr2 127,048,032 127,107,154 59,123
ENST00000376113.6 hg38 chr2 127,048,027 127,107,001 58,975
ENST00000259238.8 hg38 chr2 127,048,027 127,107,288 59,262
ENST00000376113.6 hg19 chr2 127,805,603 127,864,577 58,975
ENST00000259238.8 hg19 chr2 127,805,603 127,864,864 59,262
ENST00000346226.7 hg19 chr2 127,805,603 127,864,864 59,262
ENST00000348750.8 hg19 chr2 127,805,603 127,864,864 59,262
ENST00000351659.7 hg19 chr2 127,805,603 127,864,864 59,262
ENST00000357970.7 hg19 chr2 127,805,603 127,864,864 59,262
ENST00000393040.7 hg19 chr2 127,805,603 127,864,864 59,262
ENST00000393041.7 hg19 chr2 127,805,603 127,864,864 59,262
ENST00000316724.10 hg19 chr2 127,805,608 127,864,730 59,123
ENST00000352848.8 hg19 chr2 127,805,608 127,864,730 59,123
ENST00000409400.1 hg19 chr2 127,805,614 127,864,854 59,241
KeyValue
strand-
UniProtTSG
start127,805,598
Gene SymbolBIN1
Entrez GeneId274
Chr Band2q14
end127,864,902
chrchr2
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