ENST00000316637.7 DEF6

Information
Transcript ID
ENST00000316637.7
Genome
hg19
Position
chr6:35,265,595-35,289,548
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
Search Word
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
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
1 35,265,595 35,265,729
2 35,277,447 35,277,587
3 35,278,236 35,278,421
4 35,280,079 35,280,315
5 35,280,403 35,280,549
6 35,285,668 35,285,776
7 35,285,950 35,286,248
8 35,287,301 35,287,467
9 35,287,596 35,287,794
10 35,288,661 35,288,751
11 35,288,964 35,289,548
CDS
Exon number Type Start Stop
1 CDS 35,265,634 35,265,729
2 CDS 35,277,447 35,277,587
3 CDS 35,278,236 35,278,421
4 CDS 35,280,079 35,280,315
5 CDS 35,280,403 35,280,549
6 CDS 35,285,668 35,285,776
7 CDS 35,285,950 35,286,248
8 CDS 35,287,301 35,287,467
9 CDS 35,287,596 35,287,794
10 CDS 35,288,661 35,288,751
11 CDS 35,288,964 35,289,187
Other genome
Genome Chromosome Start End Links
hg38 chr6 35,297,818 35,321,771 Link
CDS sequence
ATGGCCCTGCGCAAGGAACTGCTCAAGTCCATCTGGTACGCCTTTACCGCGCTGGACGTGGAGAAGAGTGGCAAAGTCTCCAAGTCCCAGCTCAAGGTGCTGTCCCACAACCTGTACACGGTCCTGCACATCCCCCATGACCCCGTGGCCCTGGAGGAACACTTCCGAGATGATGATGACGGCCCTGTGTCCAGCCAGGGATACATGCCCTACCTCAACAAGTACATCCTGGACAAGGTGGAGGAGGGGGCTTTTGTTAAAGAGCACTTTGATGAGCTGTGCTGGACGCTGACGGCCAAGAAGAACTATCGGGCAGATAGCAACGGGAACAGTATGCTCTCCAATCAGGATGCCTTCCGCCTCTGGTGCCTCTTCAACTTCCTGTCTGAGGACAAGTACCCTCTGATCATGGTTCCTGATGAGGTGGAATACCTGCTGAAAAAGGTACTCAGCAGCATGAGCTTGGAGGTGAGCTTGGGTGAGCTGGAGGAGCTTCTGGCCCAGGAGGCCCAGGTGGCCCAGACCACCGGGGGGCTCAGCGTCTGGCAGTTCCTGGAGCTCTTCAATTCGGGCCGCTGCCTGCGGGGCGTGGGCCGGGACACCCTCAGCATGGCCATCCACGAGGTCTACCAGGAGCTCATCCAAGATGTCCTGAAGCAGGGCTACCTGTGGAAGCGAGGGCACCTGAGAAGGAACTGGGCCGAACGCTGGTTCCAGCTGCAGCCCAGCTGCCTCTGCTACTTTGGGAGTGAAGAGTGCAAAGAGAAAAGGGGCATTATCCCGCTGGATGCACACTGCTGCGTGGAGGTGCTGCCAGACCGCGACGGAAAGCGCTGCATGTTCTGTGTGAAGACAGCCAACCGCACGTATGAGATGAGCGCCTCAGACACGCGCCAGCGCCAGGAGTGGACAGCTGCCATCCAGATGGCGATCCGGCTGCAGGCCGAGGGGAAGACGTCCCTACACAAGGACCTGAAGCAGAAACGGCGCGAGCAGCGGGAGCAGCGGGAGCGGCGCCGGGCGGCCAAGGAAGAGGAGCTGCTGCGGCTGCAGCAGCTGCAGGAGGAGAAGGAGCGGAAGCTGCAGGAGCTGGAGCTGCTGCAGGAGGCGCAGCGGCAGGCCGAGCGGCTGCTGCAGGAGGAGGAGGAACGGCGCCGCAGCCAGCACCGCGAGCTGCAGCAGGCGCTCGAGGGCCAACTGCGCGAGGCGGAGCAGGCCCGGGCCTCCATGCAGGCTGAGATGGAGCTGAAGGAGGAGGAGGCTGCCCGGCAGCGGCAGCGCATCAAGGAGCTGGAGGAGATGCAGCAGCGGTTGCAGGAGGCCCTGCAACTAGAGGTGAAAGCTCGGCGAGATGAAGAATCTGTGCGAATCGCTCAGACCAGACTGCTGGAAGAGGAGGAAGAGAAGCTGAAGCAGTTGATGCAGCTGAAGGAGGAGCAGGAGCGCTACATCGAACGGGCGCAGCAGGAGAAGGAAGAGCTGCAGCAGGAGATGGCACAGCAGAGCCGCTCCCTGCAGCAGGCCCAGCAGCAGCTGGAGGAGGTGCGGCAGAACCGGCAGAGGGCTGACGAGGATGTGGAGGCTGCCCAGAGAAAACTGCGCCAGGCCAGCACCAACGTGAAACACTGGAATGTCCAGATGAACCGGCTGATGCATCCAATTGAGCCTGGAGATAAGCGTCCGGTCACCAGCAGCTCCTTCTCAGGCTTCCAGCCCCCTCTGCTTGCCCACCGTGACTCCTCCCTAAAGCGCCTGACCCGCTGGGGATCCCAGGGCAACAGGACCCCCTCGCCCAACAGCAATGAGCAGCAGAAGTCCCTCAATGGTGGGGATGAGGCTCCTGCCCCGGCTTCCACCCCTCAGGAAGATAAACTGGATCCAGCACCAGAAAATTAG
Amino sequence
MALRKELLKSIWYAFTALDVEKSGKVSKSQLKVLSHNLYTVLHIPHDPVALEEHFRDDDDGPVSSQGYMPYLNKYILDKVEEGAFVKEHFDELCWTLTAKKNYRADSNGNSMLSNQDAFRLWCLFNFLSEDKYPLIMVPDEVEYLLKKVLSSMSLEVSLGELEELLAQEAQVAQTTGGLSVWQFLELFNSGRCLRGVGRDTLSMAIHEVYQELIQDVLKQGYLWKRGHLRRNWAERWFQLQPSCLCYFGSEECKEKRGIIPLDAHCCVEVLPDRDGKRCMFCVKTANRTYEMSASDTRQRQEWTAAIQMAIRLQAEGKTSLHKDLKQKRREQREQRERRRAAKEEELLRLQQLQEEKERKLQELELLQEAQRQAERLLQEEEERRRSQHRELQQALEGQLREAEQARASMQAEMELKEEEAARQRQRIKELEEMQQRLQEALQLEVKARRDEESVRIAQTRLLEEEEEKLKQLMQLKEEQERYIERAQQEKEELQQEMAQQSRSLQQAQQQLEEVRQNRQRADEDVEAAQRKLRQASTNVKHWNVQMNRLMHPIEPGDKRPVTSSSFSGFQPPLLAHRDSSLKRLTRWGSQGNRTPSPNSNEQQKSLNGGDEAPAPASTPQEDKLDPAPEN*