EIF5A eukaryotic translation initiation factor 5A

Information
Symbol
EIF5A
Type
protein-coding
Description
eukaryotic translation initiation factor 5A
Entrez Gene ID
1984
Genome
hg19
Position
chr17:7,210,318-7,215,782
Genome
hg38
Position
chr17:7,306,999-7,312,463
MIM
600187 OMIM
HGNC
HGNC:3300 HGNC
Ensembl
ENSG00000132507 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 12
Benign 0 2
Likely benign 0 6
not provided 2 0
Uncertain significance 0 10
Ranking
ClinVar
0
0
2
30
6
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 EIF-5A
SYNONYM EIF5A1
SYNONYM FABAS
SYNONYM eIF-4D
SYNONYM eIF5AI
MIM 600187 OMIM
HGNC HGNC:3300 HGNC
Ensembl ENSG00000132507 Ensembl
AllianceGenome HGNC:3300
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000336452.11 hg38 chr17 7,306,999 7,312,463 5,465
ENST00000416016.2 hg38 chr17 7,308,371 7,312,455 4,085
ENST00000573542.5 hg38 chr17 7,307,602 7,312,244 4,643
ENST00000572815.5 hg38 chr17 7,307,582 7,311,868 4,287
ENST00000419711.6 hg38 chr17 7,307,974 7,312,455 4,482
ENST00000336458.13 hg38 chr17 7,307,628 7,312,463 4,836
ENST00000576930.5 hg38 chr17 7,307,540 7,312,455 4,916
ENST00000571955.5 hg38 chr17 7,307,974 7,312,455 4,482
ENST00000336452.11 hg19 chr17 7,210,318 7,215,782 5,465
ENST00000576930.5 hg19 chr17 7,210,859 7,215,774 4,916
ENST00000572815.5 hg19 chr17 7,210,901 7,215,187 4,287
ENST00000573542.5 hg19 chr17 7,210,921 7,215,563 4,643
ENST00000336458.13 hg19 chr17 7,210,947 7,215,782 4,836
ENST00000419711.6 hg19 chr17 7,211,293 7,215,774 4,482
ENST00000571955.5 hg19 chr17 7,211,293 7,215,774 4,482
ENST00000416016.2 hg19 chr17 7,211,690 7,215,774 4,085
Genome browser