ENST00000322630.3 CEP295NL

Information
Transcript ID
ENST00000322630.3
Genome
hg38
Position
chr17:78,890,579-78,903,201
Strand
-
CDS length
1,866
Amino acid length
622
Gene symbol
CEP295NL
Gene type
protein-coding
Gene description
CEP295 N-terminal like
Gene Entrez Gene ID
100653515
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 78,890,579 78,892,459
2 78,901,785 78,901,926
1 78,903,134 78,903,201
CDS
Exon number Type Start Stop
3 CDS 78,890,638 78,892,459
2 CDS 78,901,785 78,901,828
Other genome
Genome Chromosome Start End Links
hg19 chr17 76,886,661 76,899,283 Link
CDS sequence
ATGTGTTCTGGGTGGTCTAGCTCAGTCATCTGGAGACACACACAGTTTGCTGTGGAACGTTGTGGCTTCTGTGGCTCCTCAGGCCCGGGGGCGCCCCTTGAACCCTCCACTCTTGGCTCCAAGCACCTTCCCTGGGAAGCTGTATCTGCTGGGTTCGCAGACAGGAACAGAAACATGGATGGAGCCATGTGGCTGAGCCTCTGTCCTGATAACGAAGACCTGCTTTGGAGGAAAAAGCACAAATTGCTACAAGCCCGGGGCAAAGGCGATCTCGCTCTGCAGAGAAGAGCGGATGCCAAGCTGTGGAAAAACTACCAGCTCCAGCGCTTGGCTGAGGAGTTGAGGAGAGGGTATCAGGAGGCACAGCACCTGCACGTCGGTGGCCTGGACAGGCTGCAGTCAGCACGTCTGTTGGGCTGGGGAGGAGGACGGGCCAGGGAAAATGAGCCTGACTCGCAGGGGCCCATCCAGCGAAGATCAGCCAGGCCCCCGAGGGCCAAGGAGAAGCATAGAGCAGCCCTTAGTGAAGAGAGGAGTTGCAGGGAAGAGTTGGGCCAGCAACACCCCAGGCACTCCAGGCCCCGGAAGACAGCAGCGAGTCCAGAGAAACCACAGACTACAAAAGCCACGGGTCGGATGAATTCTCACCTGGCCCCGCCTGAGAAGAGAAAGGGAAGGCCAGAACCTTCGACCAAGTCTGGGGGTGGCCGCTGTGCCATCCATCCTCGGAGGAGCAAAGGGGCGGACCTAGAAAGGTCAAACCCACTCGTGGCTGCTGTGGGAGAAATCGGGCTTGTGGAGGAAAAAGAGAAAGGAACAGCTCGGGCGGGGAGGAGGCAACTGGGAAAGGGGGCAGTTTGCTTTGTTCCAGCCCTGACCAGTCGCTCTCAGGGACAGAGTCTGGAGGGGAAGCTGAGAGACCTCGGGCAGCTGTGGCCAGCTGATTCCAGCTGCAGAAGGGAAGCCGTGTCCCCAGCATCTCAGTGCACGCTCCGGGAGAAGAACAAGTGGCAGAAAGAGCTGGAGTTGGCCTTTGAAGAGTTGTTTAATATAAACAGAAAGCTGAAAAAACACCTGTGCTTGTACCTGGCACTGAAGCCCAGGATGGACCAGAGACCTGGGGAAGGGCATGCCTTCTCAGAGATGCAAGAGTGTGGCGCTGGGACCCCAAGAGGGAAGAAAATGGCAGACCCAGAGATGCTGCCTGCCGGGGAACCCAGGAGCCCAGCAGAGGAGGAGGCGCAGCAGGCAGCGTCCAAGACCGACTTGAAAACGTTCATGGGCAAGGCCCAGAACCAAAAATATCAGGGCACGGTCAAGCCCACGTTTAGAAATGGAAGTCAAACATTGTCTCCCGAGGCAGGTATATTTATCAACAAAGAGGACTCATTATTGTATAGCACTGAATCTGGACAAGAGACCCCCAAACTGGGCACGCTGGCAGAGGGCTCCCTTCAGCTCCACCTTCAAGACCAGGCAGACAGAGTGGGCTCGACGGCATCCAGGCAAAGGCAGAAAGCAGAGATGGAGCAGAGAAGACAAAAACAACTGGAATCGCTTGAACAAATGGAACACCCAGATATGAGCTTGGAAATCCACTACAAAGCTGAGCTAGAAAAAGAGAGGAGGGAGCAAAGAAGAGCTCGACTGGCCCATCTGAAGTCCTCCTCCACGAGAGCCCAGGAAAGGGAGAGAGGATCTGAGCTCAGCACCACTTCCCCATCGGGCACCAGCCTCGCCGACGACGACCGGCACAGTCAGATGATCCGAGACCAGCAGCAGCAGATCTTACAGCAAAACAGGTTGCACAAGCAGTTTCTTGAAGAAGCCCGGAAATGCTTGCGGGAGTTTCAGAACATATGCTAA
Amino sequence
MCSGWSSSVIWRHTQFAVERCGFCGSSGPGAPLEPSTLGSKHLPWEAVSAGFADRNRNMDGAMWLSLCPDNEDLLWRKKHKLLQARGKGDLALQRRADAKLWKNYQLQRLAEELRRGYQEAQHLHVGGLDRLQSARLLGWGGGRARENEPDSQGPIQRRSARPPRAKEKHRAALSEERSCREELGQQHPRHSRPRKTAASPEKPQTTKATGRMNSHLAPPEKRKGRPEPSTKSGGGRCAIHPRRSKGADLERSNPLVAAVGEIGLVEEKEKGTARAGRRQLGKGAVCFVPALTSRSQGQSLEGKLRDLGQLWPADSSCRREAVSPASQCTLREKNKWQKELELAFEELFNINRKLKKHLCLYLALKPRMDQRPGEGHAFSEMQECGAGTPRGKKMADPEMLPAGEPRSPAEEEAQQAASKTDLKTFMGKAQNQKYQGTVKPTFRNGSQTLSPEAGIFINKEDSLLYSTESGQETPKLGTLAEGSLQLHLQDQADRVGSTASRQRQKAEMEQRRQKQLESLEQMEHPDMSLEIHYKAELEKERREQRRARLAHLKSSSTRAQERERGSELSTTSPSGTSLADDDRHSQMIRDQQQQILQQNRLHKQFLEEARKCLREFQNIC*