ENST00000436638.6 ECHDC1

Information
Transcript ID
ENST00000436638.6
Genome
hg38
Position
chr6:127,289,869-127,331,028
Strand
-
CDS length
1,026
Amino acid length
342
Gene symbol
ECHDC1
Gene type
protein-coding
Gene description
ethylmalonyl-CoA decarboxylase 1
Gene Entrez Gene ID
55862
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
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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
7 127,289,869 127,290,277
6 127,314,816 127,314,896
5 127,315,934 127,315,974
4 127,316,450 127,316,502
3 127,326,496 127,326,574
2 127,327,002 127,327,144
1 127,330,809 127,331,028
CDS
Exon number Type Start Stop
7 CDS 127,289,869 127,290,277
6 CDS 127,314,816 127,314,896
5 CDS 127,315,934 127,315,974
4 CDS 127,316,450 127,316,502
3 CDS 127,326,496 127,326,574
2 CDS 127,327,002 127,327,144
1 CDS 127,330,809 127,331,028
Other genome
Genome Chromosome Start End Links
hg19 chr6 127,611,014 127,652,173 Link
CDS sequence
ATGGCGAAAAGTCTTTTGAAGACAGCCTCTCTGTCTGGAAGGACAAAATTGCTACATCAAACAGGATTGTCACTTTATAGTACATCCCATGGATTTTATGAGGAAGAAGTGAAAAAAACACTTCAGCAGTTTCCTGGTGGATCCATTGACCTTCAGAAGGAAGACAATGGCATTGGCATTCTTACTCTGAACAATCCAAGTAGAATGAATGCCTTTTCAGGTGTTATGATGCTACAACTTCTGGAAAAAGTAATTGAATTGGAAAATTGGACAGAGGGGAAAGGCCTCATTGTCCGTGGGGCAAAAAATACTTTCTCTTCAGGATCTGATCTGAATGCTGTGAAATCACTAGGAACTCCAGAGGAAAGTTGCAGATGGAATACAGAGTTCCTGTACACCCTGCATCCAGTTTCCCCTTTTATTAACATCTTATATTCCTATGGATGGAATGGCCGTATGCATGTTCATGCAAAACACCTTAACAAGATTTATGAGGTAAAGAAGCAAAGAGGAAAAATTCTTCTTGGCCTATCAAGACTTCCTTTAATAAGTGTTGCGCTGGTTCAAGGTTGGGCATTGGGTGGAGGAGCAGAATTTACTACAGCATGTGATTTCAGGTTAATGACTCCAGAGAGTAAGATCAGATTCGTCCACAAAGAGATGGGCATAATACCAAGCTGGGGTGGCACCACCCGGCTAGTTGAAATAATCGGAAGTAGACAAGCTCTCAAAGTGTTGAGTGGGGCCCTTAAACTGGATTCAAAAAATGCTCTAAACATAGGAATGGTTGAAGAGGTCTTGCAGTCTTCAGATGAAACTAAATCTCTAGAAGAGGCACAAGAATGGCTAAAGCAATTCATCCAAGGGCCACCGGAAGTAATTAGAGCTTTGAAAAAATCTGTTTGTTCAGGCAGAGAGCTATATTTGGAGGAAGCATTACAGAACGAAAGAGATCTTTTAGGAACAGTTTGGGGTGGGCCTGCAAATTTAGAGGCTATTGCTAAGAAAGGAAAATTTAATAAATAA
Amino sequence
MAKSLLKTASLSGRTKLLHQTGLSLYSTSHGFYEEEVKKTLQQFPGGSIDLQKEDNGIGILTLNNPSRMNAFSGVMMLQLLEKVIELENWTEGKGLIVRGAKNTFSSGSDLNAVKSLGTPEESCRWNTEFLYTLHPVSPFINILYSYGWNGRMHVHAKHLNKIYEVKKQRGKILLGLSRLPLISVALVQGWALGGGAEFTTACDFRLMTPESKIRFVHKEMGIIPSWGGTTRLVEIIGSRQALKVLSGALKLDSKNALNIGMVEEVLQSSDETKSLEEAQEWLKQFIQGPPEVIRALKKSVCSGRELYLEEALQNERDLLGTVWGGPANLEAIAKKGKFNK*