AutismKB 2.0

Evidence Details for RFPL1


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Basic Information Top
Gene Symbol:RFPL1 ( MGC132428,RNF78 )
Gene Full Name: ret finger protein-like 1
Band: 22q12.2
Quick LinksEntrez ID:5988; OMIM: 605968; Uniprot ID:RFPL1_HUMAN; ENSEMBL ID: ENSG00000128250; HGNC ID: 9977
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RFPL1|5988|nucleotide
ATGAAAAGGTTGTCACTTGTCACAACTAACAGGCTTTCACCTCACGGAAATTTTCTTCCCTTGTGCACTTTTCCCCTGGCAGTGGACATGGCTGCACTCTTCCAA
GAAGCAAGCAGCTGTCCCGTCTGCTCAGACTATCTAGAGAAACCAATGTCCCTGGAGTGTGGATGCGCTGTCTGCTTCAAGTGCATCAATTCACTGCAGAAGGAG
CCCCATGGGGAGGATCTACTTTGCTGTTGCTGTTCCATGGTCTCTCAGAAGAACAAAATCAGGCCCAGTTGGCAGCTAGAGAGGCTGGCTTCCCACATCAAGGAA
CTGGAGCCCAAGCTGAAGAAGATTCTGCAGATGAACCCAAGGATGCGGAAGTTCCAAGTGGATATGACCTTGGATGCCGACACAGCCAACAACTTCCTCCTCATT
TCTGACGACCTCAGGAGCGTCCGAAGTGGGTGCATCACACAGAATCGGCAAGACCTTGCCGAGAGATTTGACGTGTCCATTTGCATCCTGGGCTCCCCTCGCTTT
ACCTGTGGCCGCCACTACTGGGAGGTGGACGTGGGAACAAGCACAGAATGGGACCTGGGAGTCTGCAGAGAATCTGTTCACCGCAAAGGGAGGATCCATCTGACC
ACAGAGCGTGGATTCTGGACTGTGAGTTTGAGGGATGGAAGCCGCCTCTCTGCCAGCACGGTGCCGCTGACTTTCCTCTTCGTAGACCGCAAGTTACAGCGAGTG
GGGATTTTTCTGGATATGGGCATGCAGAACGTTTCCTTTTTTGATGCTGAAGGTGGTTCCCATGTCTATACATTCAGGAGTGTCTCTGCTGAGGAGCCACTGCAC
TTGTTTTTTGCTCCTCCAAGTCCACCTAATGGTGATAAGAGTGTCTTGAGTATCTGTCCTGTGATAAACCCGGGCACTACTGATGCTCCAGTCCATCCTGGGGAG
GCCAAATAA

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>RFPL1|5988|protein
MKRLSLVTTNRLSPHGNFLPLCTFPLAVDMAALFQEASSCPVCSDYLEKPMSLECGCAVCFKCINSLQKEPHGEDLLCCCCSMVSQKNKIRPSWQLERLASHIKE
LEPKLKKILQMNPRMRKFQVDMTLDADTANNFLLISDDLRSVRSGCITQNRQDLAERFDVSICILGSPRFTCGRHYWEVDVGTSTEWDLGVCRESVHRKGRIHLT
TERGFWTVSLRDGSRLSASTVPLTFLFVDRKLQRVGIFLDMGMQNVSFFDAEGGSHVYTFRSVSAEEPLHLFFAPPSPPNGDKSVLSICPVINPGTTDAPVHPGE
AK

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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top