Information

Transcript ID: ENST00000648057.3
Genome: hg38
Position: chr22:50,545,899-50,551,023
Strand: +
CDS length: 3,708
Amino acid length: 1,236
Gene symbol: KLHDC7B
Gene type: protein-coding
Gene description: kelch domain containing 7B
Gene Entrez Gene ID: 113730

Variants

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MGeND data only All data

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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
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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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
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

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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
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Exon

Exon number	Start	Stop
1	50,545,899	50,551,023

CDS

Exon number	Type	Start	Stop
1	CDS	50,546,244	50,549,951

Other genome

Genome	Chromosome	Start	End	Links
hg19	chr22	50,984,328	50,989,452	Link

CDS sequence

ATGATCCAGGGCACCTTGGAGCCAGATGGTCCCCTCTGGGGCTGGGACTGGGACAGTGACAATGACTGGGATAGTGCTGTGCTGGCCCTCCTGGCGCTGGCTGTGGTGGCTGCCACAGCGCTGGCCTTACACTGGTTTGGCTCCGGGCACGATCAAGAGGCGGCAGAACCGGTGTCCACAGCCCTCGGGGCTCAACCTCATCAGGCAGGAGGAGCTGAGCTGGCCCTGCAACCGAAGTCTAAGGTCAGTGATGGCAGCGAGGGGCAGAGCCCAGGGCAGGGGAAACCAGAGCCCCCAGGACGCGGCCAGCAGAGCCCTGTCCCTGCTGCAGCGCCGGGCGGGGGCCTGGCCGCCATGGCCCGGCTTCCACTCAAGACGGCTGTCGAGGAGGCCCGCAGAGAGGCATTAGGACAGCAACGGGGCAGTGCCACCCCCGCGGCCCCCCGAGCGGAAGGAAAGGAGCCTCCCAGGCCAGGCACTGCCCTCCTGGGCAGGAGCGAAGCAGGGGGGATGTCCGCCCCCCTCCTGATCCACTTCACTCCTCGGAGCCCTGGCAGCGAAGCGGAGGCGGAGACAGGTGGTGTCAGGGCGTCCTCTCGCCAGGCCGCAGGCCCCGCGGGGCAACAGGACACTGGCCCCTGGCAGGCGGGCGCGGGGCCCTCGGGCTCGATGGGGAGAGGCCGGGGCCGGCGGCGGCGGATGGACGCTGGCTCGGGAGACAGAGCCCGCCGCCCCCGGAAACTGGACCCGCTCCGCCTGGGCGCCGCGGGGAGCGTGTGGGACGCGGTGGACGGGGCCGCCGCCCTGGACGCCCACGCGCGCGGCCTCCCCACAGGACCCCCACTCGCCCAGGAGCCCGCACTCCCGGCGCTGCCCGCTCCCCGCGCCCTGCAGCCTGGGTCTCAGACGGAAGGCTCTGGGGCCAAGGGTGGCTGGAGCAGGGAGGCCTCGGGGGTCCCTGCCCCCGGAGGAGGCTGGCCCTGGGTCAGCAGGGAGGTCCCGGGCACCCGGAGCTTTGGCCCAGCCCCAGACTCCACGCGCCCCTGGCTAGAGAGTCCGCCTCAAGGTCGCCCACTCTCGTCCCAAGGGCCGGGTGCCACAGGGGCCTACGATGCCGGCGAGGCCGGGGCTGACAGCTCCCGAGATAACAGTCCTGCCGCTGACCTGGGGCCCACCCGGCCCCCGGAGCAAGCAAAGCCGGCTGCAGCCGGCCACAGCCGCGCGCCCTCCCGGAGCCGTGAGCCTCGCCCGCGCTCCGCCTCCCCGCCCGCAGCTCCCGGCCCGGGGTTCCCACCTGAAGCCCTGACTCTCCCCTCTCCTTCAGACTTTTTGCCCCTGGAGGTTACCCAGGATCCTTCCGTGGGCGAAAATCTCAGAGCGGCGCCAGCCCCAAGTTCAGCCTCAGCCCAAGTCTTAACTTCAGCTCCAGCCTCAGTCCTAGCCCCAGCCCTGGCTTCATCCCCCAGCTCAGCACCAACCTCAGCCACCACCTCAACCTCATCCCCCACCTCAGCCCCAGCCCCAGCTCCAACCTCAGCTCCAACTTCAACCCCAGCCCCAGCCCCAAGTCCAGCTGCAGCCGCAACTCCAGCCCCAGCCCCAGTCCCAGTCCCAACCCTCACACCCCCATCCCCAGCCCTAACCCCAGTCCCAACCCCAGCCCTAAGCCCAGCTCCAACTCCAGCCCTAACCCCAGCCGCATCCCCAGCCCTAACCCCAGTCCCAACCCCAGCCCTAAGCCCAGCTCCAACTCCAGCCCCAACCCCAGCCGCATCCCCTGCCCCAGCCCCCACCTCAGCCCCAACCCCAACCCCAGCCGCATCCCCTGCCCCAGCTGACGGGTCAAAGCCTCAGGAGAGTGTGGCTCTCCCCAGGCGCTACCAGGAGGGGCAGGTCTCAGCCAGCTGGGGAAACCTTATTGCCATGGTTCTTAGAAGCCACCCCTTCCCCAGGCAAGACAGGCCCCAAGGGAGTGTCCCGAGGGCGGTTCCCGGGAGCCCCGTGGGTCCCAGCACTTCCACACACTCTGAGGACAGACACGGCCCCTCTTCTTCAGTGGGGACAGTCATAGGGACAGGTACAGGGGGCCTGGTTGAGGCTGGAGGTCAGCCACAGCCAAGAAGCTCCGAGACCAACGGATCGCCCAGCCCAGACCCTCCCCCAGGCCTAAGAGGAGAGGGAACCAGGGAGAAAAGTCTAGACCCGCTGCCCCAAGCCGCGATGCCCAGGGGCCCCGCACAGCCCCCCGCGCAGAGGCCGCCTGGCCCCGCGGCCTCCTCCTCTGCGAGGCGCTCACAGCCGGTACCCCAGCTACGGAAACGCAGCAGGTGCGAAATCGCCCCGAGCTCGGAGCAGGAGGTCAGGCCGGCCGCCTCGGGGGACCCTCAAGGGGAGGCGCCGGGGGAGGGGGGCAGCCCTGCCGGCCGCAGCGGGGCGCTCACGGAAAAGCAGGAGGAGGCCCGGAAGCTCATGGTGTTTCTGCAGAGGCCCGGGGGTTGGGGGGTGGTGGAGGGGCCCCGGAAGCCCAGCTCCCGGGCCCTGGAGCCCGCCACGGCGGCAGCCCTGCGGCGGCGGCTGGACCTGGGCAGTTGCCTGGACGTGCTGGCCTTTGCCCAGCAGCACGGAGAGCCCGGCCTGGCGCAGGAGACCTACGCGCTGATGAGCGACAACCTGCTGCGAGTGCTGGGAGACCCGTGCCTCTACCGCCGGCTGAGCGCGGCCGACCGCGAGCGCATCCTCAGCCTGCGGACCGGCCGGGGCCGGGCGGTGCTGGGCGTCCTCGTACTGCCCAGCCTCTACCAGGGGGGCCGCTCAGGGCTCCCCAGGGGCCCTCGTGGCGAGGAGCCTCCTGCGGCGGCCCCTGTGTCCCTGCCTCTACCTGCGCACCTGCATGTGTTCAACCCCCGGGAGAACACCTGGCGGCCCCTGACCCAGGTGCCCGAGGAGGCCCCGCTTCGGGGCTGCGGTCTCTGCACCATGCACAACTACCTGTTTCTGGCGGGGGGCATCCGTGGCTCCGGTGCCAAGGCCGTCTGCTCCAACGAGGTCTTCTGCTACAACCCTCTGACCAACATCTGGAGCCAGGTTCGGCCCATGCAGCAGGCCCGAGCCCAGCTCAAGCTGGTGGCCCTGGACGGGCTGCTCTATGCCATCGGTGGCGAATGCCTGTACAGCATGGAGTGCTACGACCCGCGAACAGACGCCTGGACCCCACGCGCGCCACTCCCCGCAGGCACCTTCCCTGTGGCCCACGAGGCTGTGGCCTGCCGTGGGGACATCTACGTCACCGGGGGTCACCTCTTCTACCGCCTGCTCAGGTACAGCCCCGTGAAGGATGCTTGGGACGAGTGCCCATACAGTGCCAGCCACCGGCGTTCCAGCGACATCGTGGCACTGGGGGGCTTCCTGTACCGCTTCGACCTGCTGCGGGGCGTGGGCGCCGCCGTGATGCGCTACAACACAGTGACCGGCTCCTGGAGCAGGGCTGCCTCCCTGCCCCTGCCCGCCCCCGCCCCACTGCACTGCACCACCCTGGGCAACACCATTTACTGCCTCAACCCCCAGGTCACTGCCACCTTCACGGTCTCTGGGGGGACTGCCCAGTTCCAGGCCAAGGAGCTGCAGCCCTTCCCCTTGGGGAGCACCGGGGTCCTCAGTCCATTCATCCTGACTCTGCCCCCTGAGGACCGGCTGCAGACCTCACTCTGA

Amino sequence

MIQGTLEPDGPLWGWDWDSDNDWDSAVLALLALAVVAATALALHWFGSGHDQEAAEPVSTALGAQPHQAGGAELALQPKSKVSDGSEGQSPGQGKPEPPGRGQQSPVPAAAPGGGLAAMARLPLKTAVEEARREALGQQRGSATPAAPRAEGKEPPRPGTALLGRSEAGGMSAPLLIHFTPRSPGSEAEAETGGVRASSRQAAGPAGQQDTGPWQAGAGPSGSMGRGRGRRRRMDAGSGDRARRPRKLDPLRLGAAGSVWDAVDGAAALDAHARGLPTGPPLAQEPALPALPAPRALQPGSQTEGSGAKGGWSREASGVPAPGGGWPWVSREVPGTRSFGPAPDSTRPWLESPPQGRPLSSQGPGATGAYDAGEAGADSSRDNSPAADLGPTRPPEQAKPAAAGHSRAPSRSREPRPRSASPPAAPGPGFPPEALTLPSPSDFLPLEVTQDPSVGENLRAAPAPSSASAQVLTSAPASVLAPALASSPSSAPTSATTSTSSPTSAPAPAPTSAPTSTPAPAPSPAAAATPAPAPVPVPTLTPPSPALTPVPTPALSPAPTPALTPAASPALTPVPTPALSPAPTPAPTPAASPAPAPTSAPTPTPAASPAPADGSKPQESVALPRRYQEGQVSASWGNLIAMVLRSHPFPRQDRPQGSVPRAVPGSPVGPSTSTHSEDRHGPSSSVGTVIGTGTGGLVEAGGQPQPRSSETNGSPSPDPPPGLRGEGTREKSLDPLPQAAMPRGPAQPPAQRPPGPAASSSARRSQPVPQLRKRSRCEIAPSSEQEVRPAASGDPQGEAPGEGGSPAGRSGALTEKQEEARKLMVFLQRPGGWGVVEGPRKPSSRALEPATAAALRRRLDLGSCLDVLAFAQQHGEPGLAQETYALMSDNLLRVLGDPCLYRRLSAADRERILSLRTGRGRAVLGVLVLPSLYQGGRSGLPRGPRGEEPPAAAPVSLPLPAHLHVFNPRENTWRPLTQVPEEAPLRGCGLCTMHNYLFLAGGIRGSGAKAVCSNEVFCYNPLTNIWSQVRPMQQARAQLKLVALDGLLYAIGGECLYSMECYDPRTDAWTPRAPLPAGTFPVAHEAVACRGDIYVTGGHLFYRLLRYSPVKDAWDECPYSASHRRSSDIVALGGFLYRFDLLRGVGAAVMRYNTVTGSWSRAASLPLPAPAPLHCTTLGNTIYCLNPQVTATFTVSGGTAQFQAKELQPFPLGSTGVLSPFILTLPPEDRLQTSL*

ENST00000648057.3 KLHDC7B

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