Information

Transcript ID: ENST00000319004.6
Genome: hg19
Position: chr17:647,661-655,504
Strand: -
CDS length: 3,177
Amino acid length: 1,059
Gene symbol: GEMIN4
Gene type: protein-coding
Gene description: gem nuclear organelle associated protein 4
Gene Entrez Gene ID: 50628

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
2	647,661	651,272
1	655,373	655,504

CDS

Exon number	Type	Start	Stop
2	CDS	648,106	651,272
1	CDS	655,373	655,382

Other genome

Genome	Chromosome	Start	End	Links
hg38	chr17	744,421	752,264	Link

CDS sequence

ATGGACCTAGGACCCTTGAACATCTGTGAAGAAATGACTATTCTGCATGGAGGCTTCTTGCTGGCCGAGCAGCTGTTCCACCCTAAGGCACTGGCAGAATTAACAAAGTCTGACTGGGAACGTGTTGGACGGCCCATCGTGGAGGCCTTAAGGGAGATCTCCTCGGCTGCAGCACACTCCCAGCCCTTTGCCTGGAAGAAGAAAGCCCTGATCATCATCTGGGCCAAGGTTCTGCAGCCGCACCCCGTGACCCCGTCCGACACAGAGACACGGTGGCAGGAAGACCTGTTCTTCTCGGTGGGCAACATGATCCCCACCATCAACCACACCATCCTCTTCGAGCTGCTCAAATCCCTGGAAGCTTCTGGACTCTTTATCCAGCTCCTGATGGCCCTGCCCACCACCATCTGCCATGCAGAACTAGAGCGCTTTCTGGAACATGTGACCGTTGACACTTCTGCCGAAGACGTGGCCTTCTTCCTGGACGTCTGGTGGGAGGTGATGAAGCACAAGGGTCACCCGCAGGACCCCCTGCTCTCCCAGTTTAGTGCAATGGCCCATAAGTACCTGCCTGCCTTAGATGAGTTCCCCCATCCTCCAAAGAGGCTTAGGTCAGACCCAGACGCGTGCCCCACCATGCCCCTGTTGGCCATGCTGCTCCGCGGGCTGACACAGATCCAGAGTCGGATCCTGGGCCCGGGGAGGAAGTGCTGTGCGCTGGCCAACCTGGCTGACATGCTGACTGTGTTTGCGCTGACAGAGGACGACCCCCAGGAGGTGTCTGCAACCGTGTATCTGGACAAACTGGCCACGGTGATCTCTGTGTGGAACTCGGACACCCAGAATCCCTACCACCAGCAGGCGCTGGCAGAGAAGGTGAAGGAGGCAGAACGGGATGTCAGCCTGACCTCGCTGGCCAAACTCCCCAGTGAGACCATTTTCGTGGGCTGCGAGTTCCTGCACCACCTGCTGCGGGAGTGGGGGGAGGAGTTGCAGGCCGTGCTCCGCAGCAGCCAGGGGACAAGTTACGACAGCTACCGGCTGTGCGACAGTCTGACTTCCTTCAGCCAGAACGCGACGCTCTACCTGAACCGCACCAGCCTGTCCAAGGAGGACAGGCAGGTGGTCTCTGAGCTGGCGGAGTGTGTCAGGGACTTCCTGAGGAAAACGAGCACGGTGCTGAAGAACAGGGCCTTGGAGGATATCACAGCTTCCATTGCCATGGCCGTCATCCAGCAGAAGATGGACCGCCATATGGAAGTGTGCTACATTTTTGCCTCTGAGAAGAAGTGGGCCTTCTCGGACGAGTGGGTAGCCTGCCTGGGGAGTAACAGGGCCCTCTTCCGACAGCCAGACTTGGTGTTGAGGCTGCTGGAAACAGTGATAGACGTCAGCACAGCTGACAGAGCCATCCCTGAGTCTCAGATCCGGCAGGTGATCCACCTGATCCTGGAATGTTACGCAGACCTCTCCCTGCCAGGTAAAAATAAAGTCCTTGCAGGTATCCTGCGTTCCTGGGGGCGAAAGGGCCTCTCTGAAAAGTTGCTGGCTTATGTGGAGGGTTTTCAGGAAGACCTCAATACAACTTTTAACCAGCTCACTCAGAGTGCCTCCGAACAGGGCTTGGCAAAAGCTGTGGCCTCCGTGGCCCGCCTGGTCATAGTGCACCCGGAAGTCACGGTGAAGAAAATGTGCAGCCTGGCTGTGGTCAATCTCGGCACCCACAAGTTCCTGGCCCAGATTCTCACTGCCTTCCCTGCCCTTAGGTTTGTGGAAGAGCAGGGTCCCAATTCATCTGCCACTTTCATGGTGTCATGCCTCAAAGAAACCGTCTGGATGAAGTTCTCTACACCCAAGGAAGAAAAGCAATTTTTAGAGCTCCTGAACTGCCTGATGAGTCCCGTGAAACCCCAAGGGATTCCAGTGGCTGCTCTTCTTGAGCCAGACGAGGTGCTGAAGGAATTTGTCCTGCCTTTCTTGAGGTTAGATGTTGAAGAGGTAGACCTCAGTCTGAGGATCTTCATCCAGACTCTAGAGGCAAACGCGTGCCGAGAGGAATACTGGCTCCAGACCTGCTCCCCGTTTCCACTCCTCTTCAGCTTGTGCCAGCTCTTGGACCGCTTCAGCAAATACTGGCAGCTTCCCAAGGAGAAGCGGTGCCTCTCTTTGGATAGGAAGGATCTAGCGATCCATATCCTGGAGCTCCTGTGTGAGATTGTATCAGCCAATGCTGAGACCTTCTCCCCGGATGTCTGGATCAAGTCCCTGTCCTGGCTCCACCGCAAGTTAGAACAGCTAGACTGGACTGTGGGCCTGAGGCTGAAGAGCTTCTTCGAGGGGCACTTCAAGTGTGAAGTGCCAGCCACACTTTTTGAGATCTGTAAGCTTTCAGAAGACGAGTGGACCTCCCAGGCCCACCCAGGGTACGGGGCTGGCACGGGGCTCCTGGCCTGGATGGAGTGCTGCTGCGTCTCCAGCGGCATCTCGGAGAGGATGCTGTCTCTCTTGGTGGTGGACGTGGGCAATCCTGAGGAGGTCAGACTGTTCAGCAAAGGCTTTCTGGTGGCCCTGGTGCAAGTCATGCCTTGGTGCAGCCCTCAGGAGTGGCAGCGCCTTCACCAGCTGACCAGGAGACTGCTGGAGAAGCAGCTCCTCCATGTCCCTTATAGCCTGGAATATATTCAGTTTGTTCCCCTGCTCAACCTGAAGCCCTTTGCCCAGGAGTTGCAACTCTCCGTCCTCTTCCTGAGGACTTTCCAGTTTCTCTGCAGCCATAGCTGTCGTGATTGGCTTCCTCTGGAAGGCTGGAACCACGTGGTCAAACTCCTCTGTGGCAGTCTGACCCGCCTCCTGGACTCAGTCAGGGCGATACAGGCAGCTGGCCCTTGGGTTCAAGGACCAGAGCAGGACCTGACCCAGGAAGCCCTGTTTGTTTACACCCAGGTGTTCTGCCATGCTCTGCACATCATGGCCATGCTCCACCCGGAGGTCTGTGAGCCACTCTACGTTTTAGCCTTGGAAACCCTCACCTGCTATGAGACTTTGAGCAAGACCAACCCTTCTGTCAGCTCCTTGCTCCAGAGGGCACACGAGCAGCGCTTCTTAAAGTCCATTGCTGAGGGCATCGGCCCTGAAGAACGGCGCCAAACCCTGTTGCAGAAGATGAGCAGCTTCTGA

Amino sequence

MDLGPLNICEEMTILHGGFLLAEQLFHPKALAELTKSDWERVGRPIVEALREISSAAAHSQPFAWKKKALIIIWAKVLQPHPVTPSDTETRWQEDLFFSVGNMIPTINHTILFELLKSLEASGLFIQLLMALPTTICHAELERFLEHVTVDTSAEDVAFFLDVWWEVMKHKGHPQDPLLSQFSAMAHKYLPALDEFPHPPKRLRSDPDACPTMPLLAMLLRGLTQIQSRILGPGRKCCALANLADMLTVFALTEDDPQEVSATVYLDKLATVISVWNSDTQNPYHQQALAEKVKEAERDVSLTSLAKLPSETIFVGCEFLHHLLREWGEELQAVLRSSQGTSYDSYRLCDSLTSFSQNATLYLNRTSLSKEDRQVVSELAECVRDFLRKTSTVLKNRALEDITASIAMAVIQQKMDRHMEVCYIFASEKKWAFSDEWVACLGSNRALFRQPDLVLRLLETVIDVSTADRAIPESQIRQVIHLILECYADLSLPGKNKVLAGILRSWGRKGLSEKLLAYVEGFQEDLNTTFNQLTQSASEQGLAKAVASVARLVIVHPEVTVKKMCSLAVVNLGTHKFLAQILTAFPALRFVEEQGPNSSATFMVSCLKETVWMKFSTPKEEKQFLELLNCLMSPVKPQGIPVAALLEPDEVLKEFVLPFLRLDVEEVDLSLRIFIQTLEANACREEYWLQTCSPFPLLFSLCQLLDRFSKYWQLPKEKRCLSLDRKDLAIHILELLCEIVSANAETFSPDVWIKSLSWLHRKLEQLDWTVGLRLKSFFEGHFKCEVPATLFEICKLSEDEWTSQAHPGYGAGTGLLAWMECCCVSSGISERMLSLLVVDVGNPEEVRLFSKGFLVALVQVMPWCSPQEWQRLHQLTRRLLEKQLLHVPYSLEYIQFVPLLNLKPFAQELQLSVLFLRTFQFLCSHSCRDWLPLEGWNHVVKLLCGSLTRLLDSVRAIQAAGPWVQGPEQDLTQEALFVYTQVFCHALHIMAMLHPEVCEPLYVLALETLTCYETLSKTNPSVSSLLQRAHEQRFLKSIAEGIGPEERRQTLLQKMSSF*

ENST00000319004.6 GEMIN4

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