Information

Transcript ID: ENST00000432680.7
Genome: hg38
Position: chrX:150,363,317-150,514,173
Strand: +
CDS length: 2,997
Amino acid length: 999
Gene symbol: MAMLD1
Gene type: protein-coding
Gene description: mastermind like domain containing 1
Gene Entrez Gene ID: 10046

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	150,363,317	150,363,530
2	150,445,454	150,445,612
3	150,469,745	150,471,490
4	150,509,962	150,510,046
5	150,512,004	150,514,173

CDS

Exon number	Type	Start	Stop
2	CDS	150,445,517	150,445,612
3	CDS	150,469,745	150,471,490
4	CDS	150,509,962	150,510,046
5	CDS	150,512,004	150,513,073

Other genome

Genome	Chromosome	Start	End	Links
hg19	chrX	149,531,584	149,682,443	Link

CDS sequence

ATGGATGACTGGAAAAGTCGGCTTGTAATCAAGAGCATGCTTCCCCATTTCGCCATGGTGGGAAATCGTCAGGAGCCCAGAAAGCTCCAGGAATCGGGAACTGTTAAGAGGAGACAAGAAGAAGACCACTTCCAGTTTCCAGACATGGCTGATGGGGGCTACCCTAATAAAATTAAGAGGCCTTGCCTTGAAGATGTCACCCTTGCAATGGGCCCAGGTGCTCATCCTAGTACTGCTTGTGCAGAACTGCAGGTCCCTCCATTGACAATAAATCCTAGCCCTGCGGCTATGGGAGTGGCTGGCCAGTCATTACTGCTGGAGAATAACCCTATGAATGGCAACATCATGGGCTCACCATTTGTAGTACCACAGACTACAGAAGTGGGACTGAAAGGGCCCACTGTTCCTTACTATGAGAAAATCAACAGCGTGCCGGCTGTAGACCAGGAGCTTCAAGAGCTGCTAGAGGAGCTCACCAAAATTCAAGACCCTTCTCCAAATGAGCTAGATCTTGAGAAGATACTGGGGACGAAGCCAGAAGAGCCACTGGTTTTAGATCATCCCCAGGCAACCCTAAGCACAACTCCCAAGCCTTCGGTTCAGATGTCACACTTGGAGAGCCTGGCTTCCAGCAAGGAGTTTGCTTCTAGTTGCAGCCAAGTTACTGGCATGTCACTTCAGATCCCATCCTCCTCCACAGGGATCAGCTATTCGATTCCTTCCACCAGTAAGCAGATAGTGTCACCGAGTTCTTCAATGGCACAGTCCAAGAGCCAGGTCCAGGCCATGCTCCCTGTCGCTCTGCCCCCCTTACCAGTGCCTCAGTGGCATCACGCCCACCAGCTGAAGGCGTTGGCAGCCAGCAAGCAGGGGTCTGCTACAAAGCAGCAAGGGCCCACCCCCAGTTGGTCTGGTCTGCCTCCTCCAGGACTCTCTCCACCTTACCGCCCAGTGCCATCACCACACCCACCACCGCTGCCACTGCCACCACCACCACCCCCATTCAGCCCCCAGAGCCTCATGGTGTCCTGCATGTCGTCCAATACCTTGTCGGGTAGCACTCTCCGAGGCTCTCCCAATGCCTTACTGTCAAGCATGACGTCCAGCAGCAATGCTGCCCTGGGGCCCGCCATGCCCTATGCTCCTGAGAAGCTCCCCAGCCCTGCTCTCACTCAACAGCCGCAGTTCGGCCCTCAGAGCTCCATTCTTGCCAACCTCATGTCCTCTACCATCAAAACCCCTCAAGGACACCTGATGTCTGCTCTGCCTGCCAGCAACCCTGGGCCGTCCCCACCCTATCGCCCAGAGAAGCTCTCTAGCCCAGGCTTGCCACAGCAGTCCTTCACCCCACAGTGTTCCCTGATCCGAAGCCTCACTCCCACCAGTAATCTTCTAAGCCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAAGCAAATGTGATCTTTAAGCCCATAAGCAGCAACTCATCCAAAACCCTGAGCATGATCATGCAGCAGGGGATGGCAAGCTCCAGCCCAGGAGCCACGGAGCCATTTACTTTTGGCAACACCAAGCCCTTGTCCCATTTTGTTTCTGAGCCGGGTCCCCAGAAGATGCCCTCCATGCCTACCACCTCTAGGCAGCCTTCCCTGCTCCACTACCTGCAGCAGCCGACACCAACGCAGGCCTCCTCAGCCACTGCCTCCTCCACGGCCACTGCCACCTTGCAGCTGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCCTGACCATTCTTCATTCCTTCTGCAGCAGATGATGCAGCAACCCCAGCGTTTTCAGCGATCAGTGGCCTCAGATTCCATGCCTGCTCTGCCCAGACAGCAAGAGGAACAGAGATCAGGTCTTATGGCAATGACCCCTGAACGGCAGAATGCATATATCTCCCAACAGATGAGTCCATTTGAAGCCGTCCAAGAACAAGTCACCTCCAAGTGTAGCCGGATCAAGGCAAGCCCCCCATCTAGCAAGCACTTGATGCCACCCAGAACTGGGCTTCTTCAGAACAATCTGAGTCCAGGAATGATCCCACTCACCAGGCACCAGAGCTGCGAGGGCATGGGAGTGATCTCACCAACTCTGGGGAAGCGGCAAGGAATTTTCACCTCCAGCCCCCAGTGTCCCATCCTCTCACACTCAGGCCAGACTCCCCTGGGCAGACTTGACTCTGTCTGCCAGCATATGCAGAGTCCCAAGGCCACCCCACCAGAAGTGCCCCTGCCTGGGTTCTGTCCCAGCTCCCTGGGCACCCAGTCCTTGAGTCCCCACCAGCTCAGACGGCCTAGTGTGCCAAGAATGCCCACTGCGTTCAACAATGCTGCATGGGTCACAGCGGCAGCAGCTGTGACCACAGCAGTTTCGGGGAAAACACCCCTCAGCCAAGTGGATAATAGCGTTCAGCAGCACTCACCTTCTGGCCAGGCCTGCCTTCAGAGGCCATCTGATTGGGAGGCACAAGTGCCCGCTGCGATGGGAACACAAGTGCCCCTGGCCAACAACCCCAGCTTCAGCCTGCTGGGCAGCCAGAGCCTCAGGCAGAGCCCGGTACAGGGCCCGGTGCCTGTAGCAAACACCACCAAGTTCCTCCAGCAGGGTATGGCCAGCTTTAGTCCCCTGAGCCCCATACAGGGCATCGAGCCACCAAGCTATGTGGCTGCTGCTGCCACCGCTGCTGCTGCTTCTGCCGTTGCTGCCAGCCAGTTCCCAGGTCCGTTCGACAGAACGGATATTCCCCCTGAGCTGCCACCTGCCGACTTTTTGCGCCAGCCCCAACCCCCACTAAATGATCTGATTTCGTCACCTGACTGCAATGAGGTAGATTTCATTGAAGCTCTCTTGAAAGGCTCCTGTGTGAGCCCAGATGAAGACTGGGTGTGCAACTTGAGGCTGATCGACGACATTTTGGAACAGCATGCTGCTGCTCAAAATGCCACAGCCCAGAATTCTGGGCAAGTCACCCAGGATGCTGGGGCACTTTAA

Amino sequence

MDDWKSRLVIKSMLPHFAMVGNRQEPRKLQESGTVKRRQEEDHFQFPDMADGGYPNKIKRPCLEDVTLAMGPGAHPSTACAELQVPPLTINPSPAAMGVAGQSLLLENNPMNGNIMGSPFVVPQTTEVGLKGPTVPYYEKINSVPAVDQELQELLEELTKIQDPSPNELDLEKILGTKPEEPLVLDHPQATLSTTPKPSVQMSHLESLASSKEFASSCSQVTGMSLQIPSSSTGISYSIPSTSKQIVSPSSSMAQSKSQVQAMLPVALPPLPVPQWHHAHQLKALAASKQGSATKQQGPTPSWSGLPPPGLSPPYRPVPSPHPPPLPLPPPPPPFSPQSLMVSCMSSNTLSGSTLRGSPNALLSSMTSSSNAALGPAMPYAPEKLPSPALTQQPQFGPQSSILANLMSSTIKTPQGHLMSALPASNPGPSPPYRPEKLSSPGLPQQSFTPQCSLIRSLTPTSNLLSQQQQQQQQQQQANVIFKPISSNSSKTLSMIMQQGMASSSPGATEPFTFGNTKPLSHFVSEPGPQKMPSMPTTSRQPSLLHYLQQPTPTQASSATASSTATATLQLQQQQQQQQQQPDHSSFLLQQMMQQPQRFQRSVASDSMPALPRQQEEQRSGLMAMTPERQNAYISQQMSPFEAVQEQVTSKCSRIKASPPSSKHLMPPRTGLLQNNLSPGMIPLTRHQSCEGMGVISPTLGKRQGIFTSSPQCPILSHSGQTPLGRLDSVCQHMQSPKATPPEVPLPGFCPSSLGTQSLSPHQLRRPSVPRMPTAFNNAAWVTAAAAVTTAVSGKTPLSQVDNSVQQHSPSGQACLQRPSDWEAQVPAAMGTQVPLANNPSFSLLGSQSLRQSPVQGPVPVANTTKFLQQGMASFSPLSPIQGIEPPSYVAAAATAAAASAVAASQFPGPFDRTDIPPELPPADFLRQPQPPLNDLISSPDCNEVDFIEALLKGSCVSPDEDWVCNLRLIDDILEQHAAAQNATAQNSGQVTQDAGAL*

ENST00000432680.7 MAMLD1

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