ENST00000592524.6 GJC1

Information
Transcript ID
ENST00000592524.6
Genome
hg19
Position
chr17:42,875,816-42,907,655
Strand
-
CDS length
1,191
Amino acid length
397
Gene symbol
GJC1
Gene type
protein-coding
Gene description
gap junction protein gamma 1
Gene Entrez Gene ID
10052
Variants

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Target data :
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
Search Word
Target data :
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
Search Word
Target data :
MGeND data only
Category :
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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
3 42,875,816 42,883,205
2 42,884,762 42,884,837
1 42,907,430 42,907,655
CDS
Exon number Type Start Stop
3 CDS 42,881,995 42,883,185
Other genome
Genome Chromosome Start End Links
hg38 chr17 44,798,448 44,830,287 Link
CDS sequence
ATGAGTTGGAGCTTCCTGACTCGCCTGCTAGAGGAGATTCACAACCATTCCACATTTGTGGGGAAGATCTGGCTCACTGTTCTGATTGTCTTCCGGATCGTCCTTACAGCTGTAGGAGGAGAATCCATCTATTACGATGAGCAAAGCAAATTTGTGTGCAACACAGAACAGCCGGGCTGTGAGAATGTCTGTTATGATGCGTTTGCACCTCTCTCCCATGTACGCTTCTGGGTGTTCCAGATCATCCTGGTGGCAACTCCCTCTGTGATGTACCTGGGCTATGCTATCCACAAGATTGCCAAAATGGAGCACGGTGAAGCAGACAAGAAGGCAGCTCGGAGCAAGCCCTATGCAATGCGCTGGAAACAACACCGGGCTCTGGAAGAAACGGAGGAGGACAACGAAGAGGATCCTATGATGTATCCAGAGATGGAGTTAGAAAGTGATAAGGAAAATAAAGAGCAGAGCCAACCCAAACCTAAGCATGATGGCCGACGACGGATTCGGGAAGATGGGCTCATGAAAATCTATGTGCTGCAGTTGCTGGCAAGGACCGTGTTTGAGGTGGGTTTTCTGATAGGGCAGTATTTTCTGTATGGCTTCCAAGTCCACCCGTTTTATGTGTGCAGCAGACTTCCTTGTCCTCATAAGATAGACTGCTTTATTTCTAGACCCACTGAAAAGACCATCTTCCTTCTGATAATGTATGGTGTTACAGGCCTTTGCCTCTTGCTTAACATTTGGGAGATGCTTCATTTAGGGTTTGGGACCATTCGAGACTCACTAAACAGTAAAAGGAGGGAACTTGAGGATCCGGGTGCTTATAATTATCCTTTCACTTGGAATACACCATCTGCTCCCCCTGGCTATAACATTGCTGTCAAACCAGATCAAATCCAGTACACCGAACTGTCCAATGCTAAGATCGCCTACAAGCAAAACAAGGCCAACACAGCCCAGGAACAGCAGTATGGCAGCCATGAGGAGAACCTCCCAGCTGACCTGGAGGCTCTGCAGCGGGAGATCAGGATGGCTCAGGAACGCTTGGATCTGGCAGTTCAGGCCTACAGTCACCAAAACAACCCTCATGGTCCCCGGGAGAAGAAGGCCAAAGTGGGGTCCAAAGCTGGGTCCAACAAAAGCACTGCCAGTAGCAAATCAGGGGATGGGAAGACCTCCGTCTGGATTTAA
Amino sequence
MSWSFLTRLLEEIHNHSTFVGKIWLTVLIVFRIVLTAVGGESIYYDEQSKFVCNTEQPGCENVCYDAFAPLSHVRFWVFQIILVATPSVMYLGYAIHKIAKMEHGEADKKAARSKPYAMRWKQHRALEETEEDNEEDPMMYPEMELESDKENKEQSQPKPKHDGRRRIREDGLMKIYVLQLLARTVFEVGFLIGQYFLYGFQVHPFYVCSRLPCPHKIDCFISRPTEKTIFLLIMYGVTGLCLLLNIWEMLHLGFGTIRDSLNSKRRELEDPGAYNYPFTWNTPSAPPGYNIAVKPDQIQYTELSNAKIAYKQNKANTAQEQQYGSHEENLPADLEALQREIRMAQERLDLAVQAYSHQNNPHGPREKKAKVGSKAGSNKSTASSKSGDGKTSVWI*