Information

Transcript ID: ENST00000334463.4
Genome: hg38
Position: chrX:72,204,665-72,239,027
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	:
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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	72,204,665	72,208,698
1	72,238,844	72,239,027

CDS

Exon number	Type	Start	Stop
2	CDS	72,205,014	72,208,698
1	CDS	72,238,844	72,238,911

Other genome

Genome	Chromosome	Start	End	Links
hg19	chrX	71,424,515	71,458,877	Link

CDS sequence

ATGGAGGCATCCCGAAGGTTTCCGGAAGCCGAGGCCTTGAGCCCAGAGCAGGCTGCTCATTACCTAAGATATGTGAAAGAGGCCAAAGAAGCAACTAAGAATGGAGACCTGGAAGAAGCATTTAAACTTTTCAATTTGGCAAAGGACATTTTTCCCAATGAAAAAGTGCTGAGCAGAATCCAAAAAATACAGGAAGCCTTGGAGGAGTTGGCAGAACAGGGAGATGATGAATTTACAGATGTGTGCAACTCTGGCTTGCTACTTTATCGAGAACTGCACAACCAACTCTTTGAGCACCAGAAGGAAGGCATAGCTTTCCTCTATAGCCTGTATAGGGATGGAAGAAAAGGTGGTATATTGGCTGATGATATGGGATTAGGGAAGACTGTTCAAATCATTGCTTTCCTTTCCGGTATGTTTGATGCATCACTTGTGAATCATGTGCTGCTGATCATGCCAACCAATCTTATTAACACATGGGTAAAAGAATTCATCAAGTGGACTCCAGGAATGAGAGTCAAAACCTTTCATGGTCCTAGCAAGGATGAACGGACCAGAAACCTCAATCGGATTCAGCAAAGGAATGGTGTTATTATCACTACATACCAAATGTTAATCAATAACTGGCAGCAACTTTCAAGCTTTAGGGGCCAAGAGTTTGTGTGGGACTATGTCATCCTCGATGAAGCACATAAAATAAAAACCTCATCTACTAAGTCAGCAATATGTGCTCGTGCTATTCCTGCAAGTAATCGCCTCCTCCTCACAGGAACCCCAATCCAGAATAATTTACAAGAACTATGGTCCCTATTTGATTTTGCTTGTCAAGGGTCCCTGCTGGGAACATTAAAAACTTTTAAGATGGAGTATGAAAATCCTATTACTAGAGCAAGAGAGAAGGATGCTACCCCAGGAGAAAAAGCCTTGGGATTTAAAATATCTGAAAACTTAATGGCAATCATAAAACCCTATTTTCTCAGGAGGACTAAAGAAGACGTACAGAAGAAAAAGTCAAGCAACCCAGAGGCCAGACTTAATGAAAAGAATCCAGATGTTGATGCCATTTGTGAAATGCCTTCCCTTTCCAGGAAAAATGATTTAATTATTTGGATACGACTTGTGCCTTTACAAGAAGAAATATACAGGAAATTTGTGTCTTTAGATCATATCAAGGAGTTGCTAATGGAGACGCGCTCACCTTTGGCTGAGCTAGGTGTCTTAAAGAAGCTGTGTGATCATCCTAGGCTGCTGTCTGCACGGGCTTGTTGTTTGCTAAATCTTGGGACATTCTCTGCTCAAGATGGAAATGAGGGGGAAGATTCCCCAGATGTGGACCATATTGATCAAGTAACTGATGACACATTGATGGAAGAATCTGGAAAAATGATATTCCTAATGGACCTACTTAAGAGGCTGCGAGATGAGGGACATCAAACTCTGGTGTTTTCTCAATCGAGGCAAATTCTAAACATCATTGAACGCCTCTTAAAGAATAGGCACTTTAAGACATTGCGAATCGATGGGACAGTTACTCATCTTTTGGAACGAGAAAAAAGAATTAACTTATTCCAGCAAAATAAAGATTACTCTGTTTTTCTGCTTACCACTCAAGTAGGTGGTGTCGGTTTAACATTAACTGCAGCAACTAGAGTGGTCATTTTTGACCCTAGCTGGAATCCTGCAACTGATGCTCAAGCTGTGGATAGAGTTTACCGAATTGGACAAAAAGAGAATGTTGTGGTTTATAGGCTAATCACTTGTGGGACTGTAGAGGAAAAAATATACAGAAGACAGGTTTTCAAGGACTCATTAATAAGACAAACTACTGGTGAAAAAAAGAACCCTTTCCGATATTTTAGTAAACAAGAATTAAGAGAGCTCTTTACAATCGAGGATCTTCAGAACTCTGTAACCCAGCTGCAGCTTCAGTCTTTGCATGCTGCTCAGAGGAAATCTGATATAAAACTAGATGAACATATTGCCTACCTGCAGTCTTTGGGGATAGCTGGAATCTCAGACCATGATTTGATGTACACATGTGATCTGTCTGTTAAAGAAGAGCTTGATGTGGTAGAAGAATCTCACTATATTCAACAAAGGGTTCAGAAAGCTCAATTCCTCGTTGAATTCGAGTCTCAAAATAAAGAGTTCCTGATGGAACAACAAAGAACTAGAAATGAGGGGGCCTGGCTAAGAGAACCTGTATTTCCTTCTTCAACAAAGAAGAAATGCCCTAAATTGAATAAACCACAGCCTCAGCCTTCACCTCTTCTAAGTACTCATCATACTCAGGAAGAAGATATCAGTTCCAAAATGGCAAGTGTAGTCATTGATGATCTGCCCAAAGAGGGTGAGAAACAAGATCTCTCCAGTATAAAGGTGAATGTTACCACCTTGCAAGATGGTAAAGGTACAGGTAGTGCTGACTCTATAGCTACTTTACCAAAGGGGTTTGGAAGTGTAGAAGAACTTTGTACTAACTCTTCATTGGGAATGGAAAAAAGCTTTGCAACTAAAAATGAAGCTGTACAAAAAGAGACATTACAAGAGGGGCCTAAGCAAGAGGCACTGCAAGAGGATCCTCTGGAAAGTTTTAATTATGTACTTAGCAAATCAACCAAAGCTGATATTGGGCCAAATTTAGATCAACTAAAGGATGATGAGATTTTACGTCATTGCAATCCTTGGCCCATTATTTCCATAACAAATGAAAGTCAAAATGCAGAATCAAATGTATCCATTATTGAAATAGCTGATGACCTTTCAGCATCCCATAGTGCACTGCAGGATGCTCAAGCAAGTGAGGCCAAGTTGGAAGAGGAACCTTCAGCATCTTCACCACAGTATGCATGTGATTTCAATCTTTTCTTGGAAGACTCAGCAGACAACAGACAAAATTTTTCCAGTCAGTCTTTAGAGCATGTTGAGAAAGAAAATAGCTTGTGTGGCTCTGCACCTAATTCCAGAGCAGGGTTTGTGCATAGCAAAACATGTCTCAGTTGGGAGTTTTCTGAGAAAGACGATGAACCAGAAGAAGTAGTAGTTAAAGCAAAAATCAGAAGTAAAGCTAGAAGGATTGTTTCAGATGGCGAAGATGAAGATGATTCTTTTAAAGATACCTCAAGCATAAATCCATTCAACACATCTCTCTTTCAATTCTCATCTGTGAAACAATTTGATGCTTCAACTCCCAAAAATGACATCAGTCCACCAGGAAGGTTCTTTTCATCTCAAATACCCAGTAGTGTAAATAAGTCTATGAACTCTAGAAGATCTCTGGCTTCTAGGAGGTCTCTTATTAATATGGTTTTAGACCACGTGGAGGACATGGAGGAAAGACTTGACGACAGCAGTGAAGCAAAGGGTCCTGAAGATTATCCAGAAGAAGGGGTGGAGGAAAGCAGTGGCGAAGCCTCCAAGTATACAGAAGAGGATCCTTCCGGAGAAACACTGTCTTCAGAAAACAAGTCCAGCTGGTTAATGACGTCTAAGCCTAGTGCTCTAGCTCAAGAGACCTCTCTTGGTGCCCCTGAGCCTTTGTCTGGTGAACAGTTGGTTGGTTCTCCCCAGGATAAGGCGGCAGAGGCTACAAATGACTATGAGACTCTTGTAAAGCGTGGAAAAGAACTAAAAGAGTGTGGAAAAATCCAGGAGGCCCTAAACTGCTTAGTTAAAGCGCTTGACATAAAAAGTGCAGATCCTGAAGTTATGCTCTTGACTTTAAGTTTGTATAAGCAACTTAATAACAATTGA

Amino sequence

MEASRRFPEAEALSPEQAAHYLRYVKEAKEATKNGDLEEAFKLFNLAKDIFPNEKVLSRIQKIQEALEELAEQGDDEFTDVCNSGLLLYRELHNQLFEHQKEGIAFLYSLYRDGRKGGILADDMGLGKTVQIIAFLSGMFDASLVNHVLLIMPTNLINTWVKEFIKWTPGMRVKTFHGPSKDERTRNLNRIQQRNGVIITTYQMLINNWQQLSSFRGQEFVWDYVILDEAHKIKTSSTKSAICARAIPASNRLLLTGTPIQNNLQELWSLFDFACQGSLLGTLKTFKMEYENPITRAREKDATPGEKALGFKISENLMAIIKPYFLRRTKEDVQKKKSSNPEARLNEKNPDVDAICEMPSLSRKNDLIIWIRLVPLQEEIYRKFVSLDHIKELLMETRSPLAELGVLKKLCDHPRLLSARACCLLNLGTFSAQDGNEGEDSPDVDHIDQVTDDTLMEESGKMIFLMDLLKRLRDEGHQTLVFSQSRQILNIIERLLKNRHFKTLRIDGTVTHLLEREKRINLFQQNKDYSVFLLTTQVGGVGLTLTAATRVVIFDPSWNPATDAQAVDRVYRIGQKENVVVYRLITCGTVEEKIYRRQVFKDSLIRQTTGEKKNPFRYFSKQELRELFTIEDLQNSVTQLQLQSLHAAQRKSDIKLDEHIAYLQSLGIAGISDHDLMYTCDLSVKEELDVVEESHYIQQRVQKAQFLVEFESQNKEFLMEQQRTRNEGAWLREPVFPSSTKKKCPKLNKPQPQPSPLLSTHHTQEEDISSKMASVVIDDLPKEGEKQDLSSIKVNVTTLQDGKGTGSADSIATLPKGFGSVEELCTNSSLGMEKSFATKNEAVQKETLQEGPKQEALQEDPLESFNYVLSKSTKADIGPNLDQLKDDEILRHCNPWPIISITNESQNAESNVSIIEIADDLSASHSALQDAQASEAKLEEEPSASSPQYACDFNLFLEDSADNRQNFSSQSLEHVEKENSLCGSAPNSRAGFVHSKTCLSWEFSEKDDEPEEVVVKAKIRSKARRIVSDGEDEDDSFKDTSSINPFNTSLFQFSSVKQFDASTPKNDISPPGRFFSSQIPSSVNKSMNSRRSLASRRSLINMVLDHVEDMEERLDDSSEAKGPEDYPEEGVEESSGEASKYTEEDPSGETLSSENKSSWLMTSKPSALAQETSLGAPEPLSGEQLVGSPQDKAAEATNDYETLVKRGKELKECGKIQEALNCLVKALDIKSADPEVMLLTLSLYKQLNNN*

ENST00000334463.4 ERCC6L

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