Information

Transcript ID: ENST00000334463.4
Genome: hg19
Position: chrX:71,424,515-71,458,877
Strand: -
CDS length: 3,753
Amino acid length: 1,251
Gene symbol: ERCC6L
Gene type: protein-coding
Gene description: ERCC excision repair 6 like, spindle assembly checkpoint helicase
Gene Entrez Gene ID: 54821

Variants

Display target variant

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

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
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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

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

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	71,424,515	71,428,548
1	71,458,694	71,458,877

CDS

Exon number	Type	Start	Stop
2	CDS	71,424,864	71,428,548
1	CDS	71,458,694	71,458,761

Other genome

Genome	Chromosome	Start	End	Links
hg38	chrX	72,204,665	72,239,027	Link

CDS sequence

ATGGAGGCATCCCGAAGGTTTCCGGAAGCCGAGGCCTTGAGCCCAGAGCAGGCTGCTCATTACCTAAGATATGTGAAAGAGGCCAAAGAAGCAACTAAGAATGGAGACCTGGAAGAAGCATTTAAACTTTTCAATTTGGCAAAGGACATTTTTCCCAATGAAAAAGTGCTGAGCAGAATCCAAAAAATACAGGAAGCCTTGGAGGAGTTGGCAGAACAGGGAGATGATGAATTTACAGATGTGTGCAACTCTGGCTTGCTACTTTATCGAGAACTGCACAACCAACTCTTTGAGCACCAGAAGGAAGGCATAGCTTTCCTCTATAGCCTGTATAGGGATGGAAGAAAAGGTGGTATATTGGCTGATGATATGGGATTAGGGAAGACTGTTCAAATCATTGCTTTCCTTTCCGGTATGTTTGATGCATCACTTGTGAATCATGTGCTGCTGATCATGCCAACCAATCTTATTAACACATGGGTAAAAGAATTCATCAAGTGGACTCCAGGAATGAGAGTCAAAACCTTTCATGGTCCTAGCAAGGATGAACGGACCAGAAACCTCAATCGGATTCAGCAAAGGAATGGTGTTATTATCACTACATACCAAATGTTAATCAATAACTGGCAGCAACTTTCAAGCTTTAGGGGCCAAGAGTTTGTGTGGGACTATGTCATCCTCGATGAAGCACATAAAATAAAAACCTCATCTACTAAGTCAGCAATATGTGCTCGTGCTATTCCTGCAAGTAATCGCCTCCTCCTCACAGGAACCCCAATCCAGAATAATTTACAAGAACTATGGTCCCTATTTGATTTTGCTTGTCAAGGGTCCCTGCTGGGAACATTAAAAACTTTTAAGATGGAGTATGAAAATCCTATTACTAGAGCAAGAGAGAAGGATGCTACCCCAGGAGAAAAAGCCTTGGGATTTAAAATATCTGAAAACTTAATGGCAATCATAAAACCCTATTTTCTCAGGAGGACTAAAGAAGACGTACAGAAGAAAAAGTCAAGCAACCCAGAGGCCAGACTTAATGAAAAGAATCCAGATGTTGATGCCATTTGTGAAATGCCTTCCCTTTCCAGGAAAAATGATTTAATTATTTGGATACGACTTGTGCCTTTACAAGAAGAAATATACAGGAAATTTGTGTCTTTAGATCATATCAAGGAGTTGCTAATGGAGACGCGCTCACCTTTGGCTGAGCTAGGTGTCTTAAAGAAGCTGTGTGATCATCCTAGGCTGCTGTCTGCACGGGCTTGTTGTTTGCTAAATCTTGGGACATTCTCTGCTCAAGATGGAAATGAGGGGGAAGATTCCCCAGATGTGGACCATATTGATCAAGTAACTGATGACACATTGATGGAAGAATCTGGAAAAATGATATTCCTAATGGACCTACTTAAGAGGCTGCGAGATGAGGGACATCAAACTCTGGTGTTTTCTCAATCGAGGCAAATTCTAAACATCATTGAACGCCTCTTAAAGAATAGGCACTTTAAGACATTGCGAATCGATGGGACAGTTACTCATCTTTTGGAACGAGAAAAAAGAATTAACTTATTCCAGCAAAATAAAGATTACTCTGTTTTTCTGCTTACCACTCAAGTAGGTGGTGTCGGTTTAACATTAACTGCAGCAACTAGAGTGGTCATTTTTGACCCTAGCTGGAATCCTGCAACTGATGCTCAAGCTGTGGATAGAGTTTACCGAATTGGACAAAAAGAGAATGTTGTGGTTTATAGGCTAATCACTTGTGGGACTGTAGAGGAAAAAATATACAGAAGACAGGTTTTCAAGGACTCATTAATAAGACAAACTACTGGTGAAAAAAAGAACCCTTTCCGATATTTTAGTAAACAAGAATTAAGAGAGCTCTTTACAATCGAGGATCTTCAGAACTCTGTAACCCAGCTGCAGCTTCAGTCTTTGCATGCTGCTCAGAGGAAATCTGATATAAAACTAGATGAACATATTGCCTACCTGCAGTCTTTGGGGATAGCTGGAATCTCAGACCATGATTTGATGTACACATGTGATCTGTCTGTTAAAGAAGAGCTTGATGTGGTAGAAGAATCTCACTATATTCAACAAAGGGTTCAGAAAGCTCAATTCCTCGTTGAATTCGAGTCTCAAAATAAAGAGTTCCTGATGGAACAACAAAGAACTAGAAATGAGGGGGCCTGGCTAAGAGAACCTGTATTTCCTTCTTCAACAAAGAAGAAATGCCCTAAATTGAATAAACCACAGCCTCAGCCTTCACCTCTTCTAAGTACTCATCATACTCAGGAAGAAGATATCAGTTCCAAAATGGCAAGTGTAGTCATTGATGATCTGCCCAAAGAGGGTGAGAAACAAGATCTCTCCAGTATAAAGGTGAATGTTACCACCTTGCAAGATGGTAAAGGTACAGGTAGTGCTGACTCTATAGCTACTTTACCAAAGGGGTTTGGAAGTGTAGAAGAACTTTGTACTAACTCTTCATTGGGAATGGAAAAAAGCTTTGCAACTAAAAATGAAGCTGTACAAAAAGAGACATTACAAGAGGGGCCTAAGCAAGAGGCACTGCAAGAGGATCCTCTGGAAAGTTTTAATTATGTACTTAGCAAATCAACCAAAGCTGATATTGGGCCAAATTTAGATCAACTAAAGGATGATGAGATTTTACGTCATTGCAATCCTTGGCCCATTATTTCCATAACAAATGAAAGTCAAAATGCAGAATCAAATGTATCCATTATTGAAATAGCTGATGACCTTTCAGCATCCCATAGTGCACTGCAGGATGCTCAAGCAAGTGAGGCCAAGTTGGAAGAGGAACCTTCAGCATCTTCACCACAGTATGCATGTGATTTCAATCTTTTCTTGGAAGACTCAGCAGACAACAGACAAAATTTTTCCAGTCAGTCTTTAGAGCATGTTGAGAAAGAAAATAGCTTGTGTGGCTCTGCACCTAATTCCAGAGCAGGGTTTGTGCATAGCAAAACATGTCTCAGTTGGGAGTTTTCTGAGAAAGACGATGAACCAGAAGAAGTAGTAGTTAAAGCAAAAATCAGAAGTAAAGCTAGAAGGATTGTTTCAGATGGCGAAGATGAAGATGATTCTTTTAAAGATACCTCAAGCATAAATCCATTCAACACATCTCTCTTTCAATTCTCATCTGTGAAACAATTTGATGCTTCAACTCCCAAAAATGACATCAGTCCACCAGGAAGGTTCTTTTCATCTCAAATACCCAGTAGTGTAAATAAGTCTATGAACTCTAGAAGATCTCTGGCTTCTAGGAGGTCTCTTATTAATATGGTTTTAGACCACGTGGAGGACATGGAGGAAAGACTTGACGACAGCAGTGAAGCAAAGGGTCCTGAAGATTATCCAGAAGAAGGGGTGGAGGAAAGCAGTGGCGAAGCCTCCAAGTATACAGAAGAGGATCCTTCCGGAGAAACACTGTCTTCAGAAAACAAGTCCAGCTGGTTAATGACGTCTAAGCCTAGTGCTCTAGCTCAAGAGACCTCTCTTGGTGCCCCTGAGCCTTTGTCTGGTGAACAGTTGGTTGGTTCTCCCCAGGATAAGGCGGCAGAGGCTACAAATGACTATGAGACTCTTGTAAAGCGTGGAAAAGAACTAAAAGAGTGTGGAAAAATCCAGGAGGCCCTAAACTGCTTAGTTAAAGCGCTTGACATAAAAAGTGCAGATCCTGAAGTTATGCTCTTGACTTTAAGTTTGTATAAGCAACTTAATAACAATTGA

Amino sequence

MEASRRFPEAEALSPEQAAHYLRYVKEAKEATKNGDLEEAFKLFNLAKDIFPNEKVLSRIQKIQEALEELAEQGDDEFTDVCNSGLLLYRELHNQLFEHQKEGIAFLYSLYRDGRKGGILADDMGLGKTVQIIAFLSGMFDASLVNHVLLIMPTNLINTWVKEFIKWTPGMRVKTFHGPSKDERTRNLNRIQQRNGVIITTYQMLINNWQQLSSFRGQEFVWDYVILDEAHKIKTSSTKSAICARAIPASNRLLLTGTPIQNNLQELWSLFDFACQGSLLGTLKTFKMEYENPITRAREKDATPGEKALGFKISENLMAIIKPYFLRRTKEDVQKKKSSNPEARLNEKNPDVDAICEMPSLSRKNDLIIWIRLVPLQEEIYRKFVSLDHIKELLMETRSPLAELGVLKKLCDHPRLLSARACCLLNLGTFSAQDGNEGEDSPDVDHIDQVTDDTLMEESGKMIFLMDLLKRLRDEGHQTLVFSQSRQILNIIERLLKNRHFKTLRIDGTVTHLLEREKRINLFQQNKDYSVFLLTTQVGGVGLTLTAATRVVIFDPSWNPATDAQAVDRVYRIGQKENVVVYRLITCGTVEEKIYRRQVFKDSLIRQTTGEKKNPFRYFSKQELRELFTIEDLQNSVTQLQLQSLHAAQRKSDIKLDEHIAYLQSLGIAGISDHDLMYTCDLSVKEELDVVEESHYIQQRVQKAQFLVEFESQNKEFLMEQQRTRNEGAWLREPVFPSSTKKKCPKLNKPQPQPSPLLSTHHTQEEDISSKMASVVIDDLPKEGEKQDLSSIKVNVTTLQDGKGTGSADSIATLPKGFGSVEELCTNSSLGMEKSFATKNEAVQKETLQEGPKQEALQEDPLESFNYVLSKSTKADIGPNLDQLKDDEILRHCNPWPIISITNESQNAESNVSIIEIADDLSASHSALQDAQASEAKLEEEPSASSPQYACDFNLFLEDSADNRQNFSSQSLEHVEKENSLCGSAPNSRAGFVHSKTCLSWEFSEKDDEPEEVVVKAKIRSKARRIVSDGEDEDDSFKDTSSINPFNTSLFQFSSVKQFDASTPKNDISPPGRFFSSQIPSSVNKSMNSRRSLASRRSLINMVLDHVEDMEERLDDSSEAKGPEDYPEEGVEESSGEASKYTEEDPSGETLSSENKSSWLMTSKPSALAQETSLGAPEPLSGEQLVGSPQDKAAEATNDYETLVKRGKELKECGKIQEALNCLVKALDIKSADPEVMLLTLSLYKQLNNN*

ENST00000334463.4 ERCC6L

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