ENST00000450456.3 GJE1

Information
Transcript ID
ENST00000450456.3
Genome
hg19
Position
chr6:142,454,062-142,456,495
Strand
+
CDS length
618
Amino acid length
206
Gene symbol
GJE1
Gene type
protein-coding
Gene description
gap junction protein epsilon 1
Gene Entrez Gene ID
100126572
Variants

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MGeND data only
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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
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MGeND data only
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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Target data :
MGeND data only
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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
Exon
Exon number Start Stop
1 142,454,062 142,454,334
2 142,454,987 142,455,181
3 142,455,676 142,456,495
CDS
Exon number Type Start Stop
1 CDS 142,454,296 142,454,334
2 CDS 142,454,987 142,455,181
3 CDS 142,455,676 142,456,059
Other genome
Genome Chromosome Start End Links
hg38 chr6 142,132,925 142,135,358 Link
CDS sequence
ATGTCTCTAAATTACATCAAAAACTTCTATGAAGGATGTGTTAAACCTCCAACTGTGATTGGTCAATTCCACACCCTTTTCTTTGGATCGATCCGAATATTCTTCCTCGGGGTGCTAGGCTTTGCAGTTTATGGGAATGAGGCCTTGCACTTCATTTGCGATCCAGACAAAAGAGAAGTAAACCTCTTCTGTTACAATCAGTTCAGGCCAATCACTCCACAAGTAAGTTTTTCTGCATTACAACTAGTTATTGTCCTGGTTCCTGGAGCTCTTTTCCACCTTTATGCTGCATGTAAAAGCATCAATCAAGAATGCATTCTTCAAAAGCCTATCTACACTATAATTTATATACTCTCTGTTTTATTAAGAATTAGTCTAGCGGCAATAGCATTCTGGCTTCAGATTTACCTCTTTGGTTTCCAAGTAAAATCTCTTTACCTGTGTGATGCTAGATCTCTTGGGGAAAACATGATTATAAGATGCATGGTTCCAGAACACTTTGAAAAAACCATTTTTCTCATTGCAATAAATACATTTACAACAATTACAATTTTATTATTTGTTGCTGAGATTTTTGAGATCATATTTAGAAGATTATACTTTCCATTCAGACAATGA
Amino sequence
MSLNYIKNFYEGCVKPPTVIGQFHTLFFGSIRIFFLGVLGFAVYGNEALHFICDPDKREVNLFCYNQFRPITPQVSFSALQLVIVLVPGALFHLYAACKSINQECILQKPIYTIIYILSVLLRISLAAIAFWLQIYLFGFQVKSLYLCDARSLGENMIIRCMVPEHFEKTIFLIAINTFTTITILLFVAEIFEIIFRRLYFPFRQ*