AutismKB 2.0

Evidence Details for RTF1


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Basic Information Top
Gene Symbol:RTF1 ( GTL7,KIAA0252 )
Gene Full Name: Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)
Band: 15q15.1
Quick LinksEntrez ID:23168; OMIM: 611633; Uniprot ID:RTF1_HUMAN; ENSEMBL ID: ENSG00000137815; HGNC ID: 28996
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RTF1|23168|nucleotide
ATGCGCGGTCGCCTTTGTGTGGGTCGAGCAGCGGCGGCGGCGGCGGCAGTGGCGGTCCCACTGGCAGGCGGGCAAGAGGGGAGTCCGGGCGGCGGCCGGCGTGGG
AGCCGGGGGACCACCATGGTAAAGAAGCGGAAAGGCCGCGTCGTGATCGACTCGGACACAGAGGACAGCGGCAGCGACGAGAACCTGGATCAGGAGCTCTTGTCC
CTGGCAAAGCGAAAGCGCAGTGACTCTGAGGAGAAGGAGCCGCCTGTGAGTCAGCCTGCAGCCTCGTCAGACTCGGAGACGTCTGACAGTGACGATGAGTGGACA
TTTGGGAGCAATAAAAATAAGAAGAAAGGAAAAGCCAGAAAAATAGAGAAGAAAGGAACCATGAAGAAACAGGCCAACAAAACTGCCTCCTCAGGCAGTTCAGAC
AAAGACAGTTCAGCTGAGAGCTCAGCCCCTGAGGAAGGTGAAGTGTCAGACTCTGACAGCAACAGCTCCTCTTCCAGTTCAGATTCAGACTCTTCCTCAGAAGAT
GAAGAGTTCCATGATGGCTATGGAGAAGACCTCATGGGAGATGAGGAAGACAGGGCCCGTCTGGAACAGATGACAGAGAAAGAGAGAGAGCAAGAACTGTTCAAT
CGCATAGAGAAGAGGGAGGTGTTGAAAAGAAGATTTGAAATCAAGAAAAAACTAAAAACAGCCAAAAAGAAAGAAAAGAAAGAAAAGAAGAAAAAGCAAGAAGAG
GAGCAAGAAAAGAAAAAACTGACACAGATTCAAGAATCTCAGGTAACATCCCACAACAAGGAACGGCGTTCCAAGCGGGATGAGAAACTAGACAAGAAATCTCAA
GCCATGGAGGAGCTAAAAGCAGAGCGAGAAAAACGAAAGAACAGAACAGCTGAGCTCCTTGCCAAAAAACAGCCATTAAAAACCAGTGAGGTCTACTCTGATGAT
GAAGAGGAGGAAGAGGATGACAAATCCAGTGAAAAGTCAGACCGCTCATCACGAACATCATCGTCTGATGAAGAAGAGGAGAAAGAAGAGATCCCTCCCAAATCC
CAACCAGTTTCCTTACCTGAAGAATTGAATCGGGTTCGATTATCACGGCATAAGCTAGAACGCTGGTGTCACATGCCCTTCTTTGCTAAAACTGTCACAGGATGT
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>RTF1|23168|protein
MRGRLCVGRAAAAAAAVAVPLAGGQEGSPGGGRRGSRGTTMVKKRKGRVVIDSDTEDSGSDENLDQELLSLAKRKRSDSEEKEPPVSQPAASSDSETSDSDDEWT
FGSNKNKKKGKARKIEKKGTMKKQANKTASSGSSDKDSSAESSAPEEGEVSDSDSNSSSSSSDSDSSSEDEEFHDGYGEDLMGDEEDRARLEQMTEKEREQELFN
RIEKREVLKRRFEIKKKLKTAKKKEKKEKKKKQEEEQEKKKLTQIQESQVTSHNKERRSKRDEKLDKKSQAMEELKAEREKRKNRTAELLAKKQPLKTSEVYSDD
EEEEEDDKSSEKSDRSSRTSSSDEEEEKEEIPPKSQPVSLPEELNRVRLSRHKLERWCHMPFFAKTVTGCFVRIGIGNHNSKPVYRVAEITGVVETAKVYQLGGT
RTNKGLQLRHGNDQRVFRLEFVSNQEFTESEFMKWKEAMFSAGMQLPTLDEINKKELSIKEALNYKFNDQDIEEIVKEKERFRKAPPNYAMKKTQLLKEKAMAED
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (1) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top