ENST00000316637.7 DEF6

Information
Transcript ID
ENST00000316637.7
Genome
hg38
Position
chr6:35,297,818-35,321,771
Strand
+
CDS length
1,896
Amino acid length
632
Gene symbol
DEF6
Gene type
protein-coding
Gene description
DEF6 guanine nucleotide exchange factor
Gene Entrez Gene ID
50619
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
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Target data :
MGeND data only
Category :
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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
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
1 35,297,818 35,297,952
2 35,309,670 35,309,810
3 35,310,459 35,310,644
4 35,312,302 35,312,538
5 35,312,626 35,312,772
6 35,317,891 35,317,999
7 35,318,173 35,318,471
8 35,319,524 35,319,690
9 35,319,819 35,320,017
10 35,320,884 35,320,974
11 35,321,187 35,321,771
CDS
Exon number Type Start Stop
1 CDS 35,297,857 35,297,952
2 CDS 35,309,670 35,309,810
3 CDS 35,310,459 35,310,644
4 CDS 35,312,302 35,312,538
5 CDS 35,312,626 35,312,772
6 CDS 35,317,891 35,317,999
7 CDS 35,318,173 35,318,471
8 CDS 35,319,524 35,319,690
9 CDS 35,319,819 35,320,017
10 CDS 35,320,884 35,320,974
11 CDS 35,321,187 35,321,410
Other genome
Genome Chromosome Start End Links
hg19 chr6 35,265,595 35,289,548 Link
CDS sequence
ATGGCCCTGCGCAAGGAACTGCTCAAGTCCATCTGGTACGCCTTTACCGCGCTGGACGTGGAGAAGAGTGGCAAAGTCTCCAAGTCCCAGCTCAAGGTGCTGTCCCACAACCTGTACACGGTCCTGCACATCCCCCATGACCCCGTGGCCCTGGAGGAACACTTCCGAGATGATGATGACGGCCCTGTGTCCAGCCAGGGATACATGCCCTACCTCAACAAGTACATCCTGGACAAGGTGGAGGAGGGGGCTTTTGTTAAAGAGCACTTTGATGAGCTGTGCTGGACGCTGACGGCCAAGAAGAACTATCGGGCAGATAGCAACGGGAACAGTATGCTCTCCAATCAGGATGCCTTCCGCCTCTGGTGCCTCTTCAACTTCCTGTCTGAGGACAAGTACCCTCTGATCATGGTTCCTGATGAGGTGGAATACCTGCTGAAAAAGGTACTCAGCAGCATGAGCTTGGAGGTGAGCTTGGGTGAGCTGGAGGAGCTTCTGGCCCAGGAGGCCCAGGTGGCCCAGACCACCGGGGGGCTCAGCGTCTGGCAGTTCCTGGAGCTCTTCAATTCGGGCCGCTGCCTGCGGGGCGTGGGCCGGGACACCCTCAGCATGGCCATCCACGAGGTCTACCAGGAGCTCATCCAAGATGTCCTGAAGCAGGGCTACCTGTGGAAGCGAGGGCACCTGAGAAGGAACTGGGCCGAACGCTGGTTCCAGCTGCAGCCCAGCTGCCTCTGCTACTTTGGGAGTGAAGAGTGCAAAGAGAAAAGGGGCATTATCCCGCTGGATGCACACTGCTGCGTGGAGGTGCTGCCAGACCGCGACGGAAAGCGCTGCATGTTCTGTGTGAAGACAGCCAACCGCACGTATGAGATGAGCGCCTCAGACACGCGCCAGCGCCAGGAGTGGACAGCTGCCATCCAGATGGCGATCCGGCTGCAGGCCGAGGGGAAGACGTCCCTACACAAGGACCTGAAGCAGAAACGGCGCGAGCAGCGGGAGCAGCGGGAGCGGCGCCGGGCGGCCAAGGAAGAGGAGCTGCTGCGGCTGCAGCAGCTGCAGGAGGAGAAGGAGCGGAAGCTGCAGGAGCTGGAGCTGCTGCAGGAGGCGCAGCGGCAGGCCGAGCGGCTGCTGCAGGAGGAGGAGGAACGGCGCCGCAGCCAGCACCGCGAGCTGCAGCAGGCGCTCGAGGGCCAACTGCGCGAGGCGGAGCAGGCCCGGGCCTCCATGCAGGCTGAGATGGAGCTGAAGGAGGAGGAGGCTGCCCGGCAGCGGCAGCGCATCAAGGAGCTGGAGGAGATGCAGCAGCGGTTGCAGGAGGCCCTGCAACTAGAGGTGAAAGCTCGGCGAGATGAAGAATCTGTGCGAATCGCTCAGACCAGACTGCTGGAAGAGGAGGAAGAGAAGCTGAAGCAGTTGATGCAGCTGAAGGAGGAGCAGGAGCGCTACATCGAACGGGCGCAGCAGGAGAAGGAAGAGCTGCAGCAGGAGATGGCACAGCAGAGCCGCTCCCTGCAGCAGGCCCAGCAGCAGCTGGAGGAGGTGCGGCAGAACCGGCAGAGGGCTGACGAGGATGTGGAGGCTGCCCAGAGAAAACTGCGCCAGGCCAGCACCAACGTGAAACACTGGAATGTCCAGATGAACCGGCTGATGCATCCAATTGAGCCTGGAGATAAGCGTCCGGTCACCAGCAGCTCCTTCTCAGGCTTCCAGCCCCCTCTGCTTGCCCACCGTGACTCCTCCCTAAAGCGCCTGACCCGCTGGGGATCCCAGGGCAACAGGACCCCCTCGCCCAACAGCAATGAGCAGCAGAAGTCCCTCAATGGTGGGGATGAGGCTCCTGCCCCGGCTTCCACCCCTCAGGAAGATAAACTGGATCCAGCACCAGAAAATTAG
Amino sequence
MALRKELLKSIWYAFTALDVEKSGKVSKSQLKVLSHNLYTVLHIPHDPVALEEHFRDDDDGPVSSQGYMPYLNKYILDKVEEGAFVKEHFDELCWTLTAKKNYRADSNGNSMLSNQDAFRLWCLFNFLSEDKYPLIMVPDEVEYLLKKVLSSMSLEVSLGELEELLAQEAQVAQTTGGLSVWQFLELFNSGRCLRGVGRDTLSMAIHEVYQELIQDVLKQGYLWKRGHLRRNWAERWFQLQPSCLCYFGSEECKEKRGIIPLDAHCCVEVLPDRDGKRCMFCVKTANRTYEMSASDTRQRQEWTAAIQMAIRLQAEGKTSLHKDLKQKRREQREQRERRRAAKEEELLRLQQLQEEKERKLQELELLQEAQRQAERLLQEEEERRRSQHRELQQALEGQLREAEQARASMQAEMELKEEEAARQRQRIKELEEMQQRLQEALQLEVKARRDEESVRIAQTRLLEEEEEKLKQLMQLKEEQERYIERAQQEKEELQQEMAQQSRSLQQAQQQLEEVRQNRQRADEDVEAAQRKLRQASTNVKHWNVQMNRLMHPIEPGDKRPVTSSSFSGFQPPLLAHRDSSLKRLTRWGSQGNRTPSPNSNEQQKSLNGGDEAPAPASTPQEDKLDPAPEN*