ITGB1BP1 integrin subunit beta 1 binding protein 1

Information
Symbol
ITGB1BP1
Type
protein-coding
Description
integrin subunit beta 1 binding protein 1
Entrez Gene ID
9270
Genome
hg19
Position
chr2:9,543,604-9,563,358
Genome
hg38
Position
chr2:9,403,475-9,423,229
MIM
607153 OMIM
HGNC
HGNC:23927 HGNC
Ensembl
ENSG00000119185 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 0
Uncertain significance 0 14
Ranking
ClinVar
0
0
0
14
0
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 ICAP-1A
SYNONYM ICAP-1B
SYNONYM ICAP-1alpha
SYNONYM ICAP1
SYNONYM ICAP1A
SYNONYM ICAP1B
MIM 607153 OMIM
HGNC HGNC:23927 HGNC
Ensembl ENSG00000119185 Ensembl
AllianceGenome HGNC:23927
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000456913.6 hg38 chr2 9,407,030 9,423,430 16,401
ENST00000488451.5 hg38 chr2 9,406,667 9,423,480 16,814
ENST00000238091.8 hg38 chr2 9,405,684 9,423,506 17,823
ENST00000359712.7 hg38 chr2 9,406,661 9,423,250 16,590
ENST00000355346.9 hg38 chr2 9,403,475 9,423,528 20,054
ENST00000360635.7 hg38 chr2 9,403,475 9,423,229 19,755
ENST00000355346.9 hg19 chr2 9,543,604 9,563,657 20,054
ENST00000238091.8 hg19 chr2 9,545,813 9,563,635 17,823
ENST00000488451.5 hg19 chr2 9,546,796 9,563,609 16,814
ENST00000359712.7 hg19 chr2 9,546,790 9,563,379 16,590
ENST00000360635.7 hg19 chr2 9,543,604 9,563,358 19,755
ENST00000456913.6 hg19 chr2 9,547,159 9,563,559 16,401
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