CELF1 CUGBP Elav-like family member 1

Information
Symbol
CELF1
Type
protein-coding
Description
CUGBP Elav-like family member 1
Entrez Gene ID
10658
Genome
hg19
Position
chr11:47,487,489-47,574,684
Genome
hg38
Position
chr11:47,465,937-47,553,132
MIM
601074 OMIM
HGNC
HGNC:2549 HGNC
Ensembl
ENSG00000149187 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 14 2
Uncertain significance 0 28
Ranking
ClinVar
0
0
0
30
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 :
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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 BRUNOL2
SYNONYM CUG-BP
SYNONYM CUGBP
SYNONYM CUGBP1
SYNONYM EDEN-BP
SYNONYM NAB50
SYNONYM NAPOR
SYNONYM hNab50
MIM 601074 OMIM
HGNC HGNC:2549 HGNC
Ensembl ENSG00000149187 Ensembl
AllianceGenome HGNC:2549
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000358597.7 hg38 chr11 47,468,284 47,489,014 20,731
ENST00000395292.6 hg38 chr11 47,468,393 47,494,521 26,129
ENST00000395290.6 hg38 chr11 47,465,944 47,489,024 23,081
ENST00000361904.7 hg38 chr11 47,468,814 47,489,025 20,212
ENST00000532048.5 hg38 chr11 47,470,318 47,523,988 53,671
ENST00000310513.10 hg38 chr11 47,465,933 47,553,117 87,185
ENST00000531165.5 hg38 chr11 47,470,316 47,553,117 82,802
ENST00000687097.1 hg38 chr11 47,465,937 47,553,132 87,196
ENST00000310513.10 hg19 chr11 47,487,485 47,574,669 87,185
ENST00000395290.6 hg19 chr11 47,487,496 47,510,576 23,081
ENST00000358597.7 hg19 chr11 47,489,836 47,510,566 20,731
ENST00000395292.6 hg19 chr11 47,489,945 47,516,073 26,129
ENST00000361904.7 hg19 chr11 47,490,366 47,510,577 20,212
ENST00000531165.5 hg19 chr11 47,491,868 47,574,669 82,802
ENST00000532048.5 hg19 chr11 47,491,870 47,545,540 53,671
ENST00000687097.1 hg19 chr11 47,487,489 47,574,684 87,196
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