ENST00000373657.2 ERCC6L

Information
Transcript ID
ENST00000373657.2
Genome
hg38
Position
chrX:72,204,657-72,239,027
Strand
-
CDS length
3,384
Amino acid length
1,128
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


Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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
Entry Origin Type Annotation
Exon
Exon number Start Stop
3 72,204,657 72,208,698
2 72,237,831 72,237,948
1 72,238,844 72,239,027
CDS
Exon number Type Start Stop
3 CDS 72,205,014 72,208,397
Other genome
Genome Chromosome Start End Links
hg19 chrX 71,424,507 71,458,877 Link
CDS sequence
ATGGGATTAGGGAAGACTGTTCAAATCATTGCTTTCCTTTCCGGTATGTTTGATGCATCACTTGTGAATCATGTGCTGCTGATCATGCCAACCAATCTTATTAACACATGGGTAAAAGAATTCATCAAGTGGACTCCAGGAATGAGAGTCAAAACCTTTCATGGTCCTAGCAAGGATGAACGGACCAGAAACCTCAATCGGATTCAGCAAAGGAATGGTGTTATTATCACTACATACCAAATGTTAATCAATAACTGGCAGCAACTTTCAAGCTTTAGGGGCCAAGAGTTTGTGTGGGACTATGTCATCCTCGATGAAGCACATAAAATAAAAACCTCATCTACTAAGTCAGCAATATGTGCTCGTGCTATTCCTGCAAGTAATCGCCTCCTCCTCACAGGAACCCCAATCCAGAATAATTTACAAGAACTATGGTCCCTATTTGATTTTGCTTGTCAAGGGTCCCTGCTGGGAACATTAAAAACTTTTAAGATGGAGTATGAAAATCCTATTACTAGAGCAAGAGAGAAGGATGCTACCCCAGGAGAAAAAGCCTTGGGATTTAAAATATCTGAAAACTTAATGGCAATCATAAAACCCTATTTTCTCAGGAGGACTAAAGAAGACGTACAGAAGAAAAAGTCAAGCAACCCAGAGGCCAGACTTAATGAAAAGAATCCAGATGTTGATGCCATTTGTGAAATGCCTTCCCTTTCCAGGAAAAATGATTTAATTATTTGGATACGACTTGTGCCTTTACAAGAAGAAATATACAGGAAATTTGTGTCTTTAGATCATATCAAGGAGTTGCTAATGGAGACGCGCTCACCTTTGGCTGAGCTAGGTGTCTTAAAGAAGCTGTGTGATCATCCTAGGCTGCTGTCTGCACGGGCTTGTTGTTTGCTAAATCTTGGGACATTCTCTGCTCAAGATGGAAATGAGGGGGAAGATTCCCCAGATGTGGACCATATTGATCAAGTAACTGATGACACATTGATGGAAGAATCTGGAAAAATGATATTCCTAATGGACCTACTTAAGAGGCTGCGAGATGAGGGACATCAAACTCTGGTGTTTTCTCAATCGAGGCAAATTCTAAACATCATTGAACGCCTCTTAAAGAATAGGCACTTTAAGACATTGCGAATCGATGGGACAGTTACTCATCTTTTGGAACGAGAAAAAAGAATTAACTTATTCCAGCAAAATAAAGATTACTCTGTTTTTCTGCTTACCACTCAAGTAGGTGGTGTCGGTTTAACATTAACTGCAGCAACTAGAGTGGTCATTTTTGACCCTAGCTGGAATCCTGCAACTGATGCTCAAGCTGTGGATAGAGTTTACCGAATTGGACAAAAAGAGAATGTTGTGGTTTATAGGCTAATCACTTGTGGGACTGTAGAGGAAAAAATATACAGAAGACAGGTTTTCAAGGACTCATTAATAAGACAAACTACTGGTGAAAAAAAGAACCCTTTCCGATATTTTAGTAAACAAGAATTAAGAGAGCTCTTTACAATCGAGGATCTTCAGAACTCTGTAACCCAGCTGCAGCTTCAGTCTTTGCATGCTGCTCAGAGGAAATCTGATATAAAACTAGATGAACATATTGCCTACCTGCAGTCTTTGGGGATAGCTGGAATCTCAGACCATGATTTGATGTACACATGTGATCTGTCTGTTAAAGAAGAGCTTGATGTGGTAGAAGAATCTCACTATATTCAACAAAGGGTTCAGAAAGCTCAATTCCTCGTTGAATTCGAGTCTCAAAATAAAGAGTTCCTGATGGAACAACAAAGAACTAGAAATGAGGGGGCCTGGCTAAGAGAACCTGTATTTCCTTCTTCAACAAAGAAGAAATGCCCTAAATTGAATAAACCACAGCCTCAGCCTTCACCTCTTCTAAGTACTCATCATACTCAGGAAGAAGATATCAGTTCCAAAATGGCAAGTGTAGTCATTGATGATCTGCCCAAAGAGGGTGAGAAACAAGATCTCTCCAGTATAAAGGTGAATGTTACCACCTTGCAAGATGGTAAAGGTACAGGTAGTGCTGACTCTATAGCTACTTTACCAAAGGGGTTTGGAAGTGTAGAAGAACTTTGTACTAACTCTTCATTGGGAATGGAAAAAAGCTTTGCAACTAAAAATGAAGCTGTACAAAAAGAGACATTACAAGAGGGGCCTAAGCAAGAGGCACTGCAAGAGGATCCTCTGGAAAGTTTTAATTATGTACTTAGCAAATCAACCAAAGCTGATATTGGGCCAAATTTAGATCAACTAAAGGATGATGAGATTTTACGTCATTGCAATCCTTGGCCCATTATTTCCATAACAAATGAAAGTCAAAATGCAGAATCAAATGTATCCATTATTGAAATAGCTGATGACCTTTCAGCATCCCATAGTGCACTGCAGGATGCTCAAGCAAGTGAGGCCAAGTTGGAAGAGGAACCTTCAGCATCTTCACCACAGTATGCATGTGATTTCAATCTTTTCTTGGAAGACTCAGCAGACAACAGACAAAATTTTTCCAGTCAGTCTTTAGAGCATGTTGAGAAAGAAAATAGCTTGTGTGGCTCTGCACCTAATTCCAGAGCAGGGTTTGTGCATAGCAAAACATGTCTCAGTTGGGAGTTTTCTGAGAAAGACGATGAACCAGAAGAAGTAGTAGTTAAAGCAAAAATCAGAAGTAAAGCTAGAAGGATTGTTTCAGATGGCGAAGATGAAGATGATTCTTTTAAAGATACCTCAAGCATAAATCCATTCAACACATCTCTCTTTCAATTCTCATCTGTGAAACAATTTGATGCTTCAACTCCCAAAAATGACATCAGTCCACCAGGAAGGTTCTTTTCATCTCAAATACCCAGTAGTGTAAATAAGTCTATGAACTCTAGAAGATCTCTGGCTTCTAGGAGGTCTCTTATTAATATGGTTTTAGACCACGTGGAGGACATGGAGGAAAGACTTGACGACAGCAGTGAAGCAAAGGGTCCTGAAGATTATCCAGAAGAAGGGGTGGAGGAAAGCAGTGGCGAAGCCTCCAAGTATACAGAAGAGGATCCTTCCGGAGAAACACTGTCTTCAGAAAACAAGTCCAGCTGGTTAATGACGTCTAAGCCTAGTGCTCTAGCTCAAGAGACCTCTCTTGGTGCCCCTGAGCCTTTGTCTGGTGAACAGTTGGTTGGTTCTCCCCAGGATAAGGCGGCAGAGGCTACAAATGACTATGAGACTCTTGTAAAGCGTGGAAAAGAACTAAAAGAGTGTGGAAAAATCCAGGAGGCCCTAAACTGCTTAGTTAAAGCGCTTGACATAAAAAGTGCAGATCCTGAAGTTATGCTCTTGACTTTAAGTTTGTATAAGCAACTTAATAACAATTGA
Amino sequence
MGLGKTVQIIAFLSGMFDASLVNHVLLIMPTNLINTWVKEFIKWTPGMRVKTFHGPSKDERTRNLNRIQQRNGVIITTYQMLINNWQQLSSFRGQEFVWDYVILDEAHKIKTSSTKSAICARAIPASNRLLLTGTPIQNNLQELWSLFDFACQGSLLGTLKTFKMEYENPITRAREKDATPGEKALGFKISENLMAIIKPYFLRRTKEDVQKKKSSNPEARLNEKNPDVDAICEMPSLSRKNDLIIWIRLVPLQEEIYRKFVSLDHIKELLMETRSPLAELGVLKKLCDHPRLLSARACCLLNLGTFSAQDGNEGEDSPDVDHIDQVTDDTLMEESGKMIFLMDLLKRLRDEGHQTLVFSQSRQILNIIERLLKNRHFKTLRIDGTVTHLLEREKRINLFQQNKDYSVFLLTTQVGGVGLTLTAATRVVIFDPSWNPATDAQAVDRVYRIGQKENVVVYRLITCGTVEEKIYRRQVFKDSLIRQTTGEKKNPFRYFSKQELRELFTIEDLQNSVTQLQLQSLHAAQRKSDIKLDEHIAYLQSLGIAGISDHDLMYTCDLSVKEELDVVEESHYIQQRVQKAQFLVEFESQNKEFLMEQQRTRNEGAWLREPVFPSSTKKKCPKLNKPQPQPSPLLSTHHTQEEDISSKMASVVIDDLPKEGEKQDLSSIKVNVTTLQDGKGTGSADSIATLPKGFGSVEELCTNSSLGMEKSFATKNEAVQKETLQEGPKQEALQEDPLESFNYVLSKSTKADIGPNLDQLKDDEILRHCNPWPIISITNESQNAESNVSIIEIADDLSASHSALQDAQASEAKLEEEPSASSPQYACDFNLFLEDSADNRQNFSSQSLEHVEKENSLCGSAPNSRAGFVHSKTCLSWEFSEKDDEPEEVVVKAKIRSKARRIVSDGEDEDDSFKDTSSINPFNTSLFQFSSVKQFDASTPKNDISPPGRFFSSQIPSSVNKSMNSRRSLASRRSLINMVLDHVEDMEERLDDSSEAKGPEDYPEEGVEESSGEASKYTEEDPSGETLSSENKSSWLMTSKPSALAQETSLGAPEPLSGEQLVGSPQDKAAEATNDYETLVKRGKELKECGKIQEALNCLVKALDIKSADPEVMLLTLSLYKQLNNN*