ENST00000646893.2 RFX8

Information
Transcript ID
ENST00000646893.2
Genome
hg38
Position
chr2:101,397,361-101,474,275
Strand
-
CDS length
1,761
Amino acid length
587
Gene symbol
RFX8
Gene type
protein-coding
Gene description
regulatory factor X8
Gene Entrez Gene ID
731220
Variants

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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
Entry Origin Type Annotation Entry Origin Annotation
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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
Entry Origin Type Annotation
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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
Entry Origin Type Annotation
Exon
Exon number Start Stop
15 101,397,361 101,397,724
14 101,402,436 101,402,752
13 101,405,943 101,406,057
12 101,410,619 101,410,713
11 101,412,915 101,413,071
10 101,414,854 101,414,912
9 101,417,534 101,417,684
8 101,418,851 101,418,964
7 101,421,724 101,421,777
6 101,422,362 101,422,472
5 101,428,956 101,429,019
4 101,450,594 101,450,680
3 101,452,385 101,452,446
2 101,466,777 101,466,900
1 101,474,202 101,474,275
CDS
Exon number Type Start Stop
15 CDS 101,397,548 101,397,724
14 CDS 101,402,436 101,402,752
13 CDS 101,405,943 101,406,057
12 CDS 101,410,619 101,410,713
11 CDS 101,412,915 101,413,071
10 CDS 101,414,854 101,414,912
9 CDS 101,417,534 101,417,684
8 CDS 101,418,851 101,418,964
7 CDS 101,421,724 101,421,777
6 CDS 101,422,362 101,422,472
5 CDS 101,428,956 101,429,019
4 CDS 101,450,594 101,450,680
3 CDS 101,452,385 101,452,446
2 CDS 101,466,777 101,466,900
1 CDS 101,474,202 101,474,275
Other genome
Genome Chromosome Start End Links
hg19 chr2 102,013,823 102,090,737 Link
CDS sequence
ATGGCCGAGGGGGTGCCGGCCTCGCCGTCGAGCGGCGAGGGTAGCCGGGGCCCGCACAGCGGCGTCATCCAGTGGTTGGTCGACAACTTCTGCATTTGCGAAGAGTGCAGCGTCCCTCGCTGTCTCATGTATGAGATTTACGTGGAGACCTGTGGGCAAAACACTGAGAACCAAGTCAACCCGGCCACCTTTGGGAAGCTTGTGAGATTGGTTTTTCCGGACCTTGGCACCCGGAGGCTGGGCACTAGAGGAAGTGCCAGGTATCATTATGATGGAATCTGTATCAAGAAAAGCTCTTTCTTCTATGCCCAGTATTGCTACCTGATAGGTGAAAAAAGGTATCACAGTGGAGATGCCATTGCCTTTGAAAAATCTACTAATTATAACAGCATTATCCAACAAGAAGCAACATGTGAAGATCATTCACCGATGAAGACAGACCCAGTTGGATCCCCTTTGTCTGAATTCAGGAGATGTCCATTTCTGGAGCAAGAACAGGCAAAGAAATACTCCTGTAATATGATGGCCTTCCTTGCTGACGAATACTGCAACTATTGTCGAGACATTTTACGAAATGTGGAGGACTTGCTTACTTCCTTCTGGAAGTCTCTGCAGCAAGACACAGTCATGCTGATGTCATTGCCTGACGTGTGCCAGCTCTTTAAATGCTACGACGTCCAGCTGTACAAGGGAATTGAGGATGTTCTCCTTCATGACTTCTTGGAAGATGTTTCTATTCAGTACCTGAAATCTGTGCAGTTATTTAGTAAGAAATTTAAGCTGTGGCTCCTTAATGCTTTGGAAGGTGTTCCAGCCCTCTTGCAGATCTCCAAACTCAAAGAAGTTACTCTATTTGTCAAAAGACTAAGAAGAAAGACGTACCTTTCCAACATGGCTAAGACTATGCGAATGGTATTGAAAAGTAAGAGGCGTGTCAGCGTTTTGAAGTCAGATCTACAGGCCATCATCAATCAAGGCACTTTGGCTACTTCTAAGAAAGCCCTGGCAAGTGACCGGAGTGGCGCAGATGAACTGGAGAACAACCCAGAGATGAAATGTTTAAGAAACTTAATTTCTTTGCTGGGAACATCAACAGATCTCAGGGTATTCCTCAGCTGTCTGTCTTCACATCTCCAAGCATTTGTGTTCCAGACAAGCAGAAGCAAAGAAGAGTTTACCAAATTGGCCGCCAGCTTCCAGCTGAGATGGAATCTTCTTCTCACTGCTGTAAGCAAAGCCATGACCCTCTGCCACAGAGATAGTTTTGGCTCCTGGCATCTGTTTCACTTGTTGCTTTTGGAATATATGATTCATATACTTCAGTCATGCCTAGAGGAGGAAGAGGAGGAGGAGGACATGGGGACTGTCAAGGAAATGCTACCAGATGACCCGACTCTCGGCCAGCCAGACCAGGCACTTTTCCATTCTCTGAATTCCTCACTGTCGCAGGCGTGTGCCAGCCCCAGCATGGAGCCACTGGGGGTGATGCCCACACACATGGGCCAGGGCCGATATCCCGTGGGTGTGAGCAACATGGTCCTCAGGATCCTGGGCTTCCTGGTGGACACTGCCATGGGCAATAAGCTCATCCAGGTGCTGTTGGAAGATGAAACCACTGAAAGCGCAGTTAAACTCAGCCTTCCTATGGGACAAGAAGCCCTCATAACCCTAAAAGATGGACAACAATTTGTGATTCAGATATCAGATGTACCCCAAAGCTCTGAAGATATTTATTTCAGAGAAAACAATGCTAATGTGTGA
Amino sequence
MAEGVPASPSSGEGSRGPHSGVIQWLVDNFCICEECSVPRCLMYEIYVETCGQNTENQVNPATFGKLVRLVFPDLGTRRLGTRGSARYHYDGICIKKSSFFYAQYCYLIGEKRYHSGDAIAFEKSTNYNSIIQQEATCEDHSPMKTDPVGSPLSEFRRCPFLEQEQAKKYSCNMMAFLADEYCNYCRDILRNVEDLLTSFWKSLQQDTVMLMSLPDVCQLFKCYDVQLYKGIEDVLLHDFLEDVSIQYLKSVQLFSKKFKLWLLNALEGVPALLQISKLKEVTLFVKRLRRKTYLSNMAKTMRMVLKSKRRVSVLKSDLQAIINQGTLATSKKALASDRSGADELENNPEMKCLRNLISLLGTSTDLRVFLSCLSSHLQAFVFQTSRSKEEFTKLAASFQLRWNLLLTAVSKAMTLCHRDSFGSWHLFHLLLLEYMIHILQSCLEEEEEEEDMGTVKEMLPDDPTLGQPDQALFHSLNSSLSQACASPSMEPLGVMPTHMGQGRYPVGVSNMVLRILGFLVDTAMGNKLIQVLLEDETTESAVKLSLPMGQEALITLKDGQQFVIQISDVPQSSEDIYFRENNANV*