AutismKB 2.0

Evidence Details for RSL1D1


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Basic Information Top
Gene Symbol:RSL1D1 ( CSIG,DKFZP564M182,MGC138433,MGC142259,PBK1 )
Gene Full Name: ribosomal L1 domain containing 1
Band: 16p13.13
Quick LinksEntrez ID:26156; OMIM: NA; Uniprot ID:RL1D1_HUMAN; ENSEMBL ID: ENSG00000171490; HGNC ID: 24534
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RSL1D1|26156|nucleotide
ATGGAGGATTCGGCCTCGGCCTCGCTGTCTTCTGCAGCCGCTACTGGAACCTCCACCTCGACTCCAGCGGCCCCGACAGCACGGAAGCAGCTGGATAAAGAACAG
GTTAGAAAGGCAGTGGACGCTCTCTTGACGCATTGCAAGTCCAGGAAAAACAATTATGGGTTGCTTTTGAATGAGAATGAAAGTTTATTTTTAATGGTGGTATTA
TGGAAAATTCCAAGTAAAGAACTGAGGGTCAGATTGACCTTGCCTCATAGTATTCGATCAGATTCAGAAGATATCTGTTTATTTACGAAGGATGAACCCAATTCA
ACTCCTGAAAAGACAGAACAGTTTTATAGAAAGCTTTTAAACAAGCATGGAATTAAAACCGTTTCTCAGATTATCTCCCTCCAAACTCTAAAGAAGGAATATAAA
TCCTATGAAGCCAAGCTCCGCCTTCTGAGCAGTTTTGATTTCTTCCTTACTGATGCCAGAATTAGGCGGCTCTTACCCTCACTCATTGGGAGACATTTCTATCAA
AGAAAGAAAGTTCCAGTATCTGTAAACCTTCTGTCCAAGAATTTATCAAGAGAGATCAATGACTGTATAGGTGGAACAGTCTTAAACATTTCTAAAAGTGGTTCT
TGCAGTGCTATACGTATTGGTCACGTTGGAATGCAAATTGAGCACATCATTGAAAACATTGTTGCTGTCACCAAAGGACTTTCAGAAAAATTGCCAGAGAAGTGG
GAGAGCGTGAAACTCCTGTTTGTGAAAACTGAGAAATCGGCTGCACTTCCCATCTTTTCCTCGTTTGTCAGCAATTGGGATGAAGCCACCAAAAGATCTTTGCTT
AATAAGAAGAAAAAAGAGGCAAGGAGAAAACGAAGAGAAAGAAATTTTGAAAAACAAAAGGAGAGGAAGAAGAAGAGGCAGCAGGCTAGGAAGACTGCATCAGTT
CTTAGTAAAGATGATGTGGCACCTGAAAGTGGTGATACTACAGTGAAGAAACCTGAATCAAAGAAGGAACAGACCCCAGAGCATGGGAAGAAAAAACGTGGCAGA
GGAAAAGCCCAAGTTAAAGCAACAAATGAATCCGAAGACGAAATCCCACAGCTGGTACCAATAGGAAAGAAGACTCCAGCTAATGAAAAAGTAGAGATTCAAAAA
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>RSL1D1|26156|protein
MEDSASASLSSAAATGTSTSTPAAPTARKQLDKEQVRKAVDALLTHCKSRKNNYGLLLNENESLFLMVVLWKIPSKELRVRLTLPHSIRSDSEDICLFTKDEPNS
TPEKTEQFYRKLLNKHGIKTVSQIISLQTLKKEYKSYEAKLRLLSSFDFFLTDARIRRLLPSLIGRHFYQRKKVPVSVNLLSKNLSREINDCIGGTVLNISKSGS
CSAIRIGHVGMQIEHIIENIVAVTKGLSEKLPEKWESVKLLFVKTEKSAALPIFSSFVSNWDEATKRSLLNKKKKEARRKRRERNFEKQKERKKKRQQARKTASV
LSKDDVAPESGDTTVKKPESKKEQTPEHGKKKRGRGKAQVKATNESEDEIPQLVPIGKKTPANEKVEIQKHATGKKSPAKSPNPSTPRGKKRKALPASETPKAAE
SETPGKSPEKKPKIKEEAVKEKSPSLGKKDARQTPKKPEAKFFTTPSKSVRKASHTPKKWPKKPKVPQST
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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (5)
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