AutismKB 2.0

Evidence Details for SRPR


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Basic Information Top
Gene Symbol:SRPR ( DP,MGC17355,MGC3650,MGC9571,Sralpha )
Gene Full Name: signal recognition particle receptor (docking protein)
Band: 11q24.2
Quick LinksEntrez ID:6734; OMIM: 182180; Uniprot ID:SRPR_HUMAN; ENSEMBL ID: ENSG00000182934; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SRPR|6734|nucleotide
ATGCTCGACTTCTTCACCATTTTCTCCAAGGGCGGGCTTGTGCTCTGGTGCTTCCAGGGCGTTAGCGACTCATGCACCGGACCCGTTAACGCGTTGATTCGTTCC
GTGCTGCTGCAGGTTGGTTTTCAGAAGATCCTGACACTGACATATGTAGACAAATTGATAGATGACGTGCATCGGCTGTTTCGGGACAAGTACCGCACAGAGATC
CAACAGCAAAGTGCTTTAAGTTTATTAAATGGCACTTTTGATTTCCAAAATGACTTCCTGCGGCTCCTTCGTGAAGCAGAGGAGAGCAGTAAGATCCGTGCTCCC
ACTACCATGAAGAAATTTGAAGATTCTGAAAAGGCCAAGAAACCTGTGAGGTCCATGATTGAGACACGGGGGGAAAAGCCCAAGGAAAAAGCAAAGAATAGCAAA
AAAAAGGGGGCCAAGAAGGAAGGTTCTGATGGTCCTTTGGCTACCAGCAAACCAGTCCCTGCAGAAAAGTCAGGTCTTCCAGTGGGTCCTGAGAACGGAGTAGAA
CTTTCCAAAGAGGAGCTGATCCGCAGGAAGCGCGAGGAGTTCATTCAGAAGCATGGGAGGGGTATGGAGAAGTCCAACAAGTCCACGAAGTCAGATGCTCCAAAG
GAGAAGGGCAAAAAAGCACCCCGGGTGTGGGAACTGGGTGGCTGTGCTAACAAAGAAGTGTTGGATTACAGTACTCCCACCACCAATGGAACCCCTGAGGCTGCC
TTGTCTGAGGACATCAACCTGATTCGAGGGACTGGGTCTGGGGGGCAGCTTCAGGATCTGGACTGCAGCAGCTCTGATGACGAAGGGGCTGCTCAAAACTCTACC
AAACCTAGTGCGACCAAGGGAACACTGGGTGGCATGTTTGGTATGCTGAAGGGCCTTGTGGGTTCAAAGAGCTTGAGTCGTGAAGACATGGAATCTGTGCTGGAC
AAGATGCGTGATCATCTCATTGCTAAGAACGTGGCTGCAGACATTGCCGTCCAGCTCTGTGAATCTGTTGCCAACAAGTTGGAAGGGAAGGTGATGGGGACGTTC
AGCACGGTGACTTCCACAGTAAAGCAAGCCCTACAGGAGTCCCTGGTGCAGATTCTGCAGCCACAGCGTCGTGTAGACATGCTCCGGGACATCATGGATGCCCAG
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>SRPR|6734|protein
MLDFFTIFSKGGLVLWCFQGVSDSCTGPVNALIRSVLLQVGFQKILTLTYVDKLIDDVHRLFRDKYRTEIQQQSALSLLNGTFDFQNDFLRLLREAEESSKIRAP
TTMKKFEDSEKAKKPVRSMIETRGEKPKEKAKNSKKKGAKKEGSDGPLATSKPVPAEKSGLPVGPENGVELSKEELIRRKREEFIQKHGRGMEKSNKSTKSDAPK
EKGKKAPRVWELGGCANKEVLDYSTPTTNGTPEAALSEDINLIRGTGSGGQLQDLDCSSSDDEGAAQNSTKPSATKGTLGGMFGMLKGLVGSKSLSREDMESVLD
KMRDHLIAKNVAADIAVQLCESVANKLEGKVMGTFSTVTSTVKQALQESLVQILQPQRRVDMLRDIMDAQRRQRPYVVTFCGVNGVGKSTNLAKISFWLLENGFS
VLIAACDTFRAGAVEQLRTHTRRLSALHPPEKHGGRTMVQLFEKGYGKDAAGIAMEAIAFARNQGFDVVLVDTAGRMQDNAPLMTALAKLITVNTPDLVLFVGEA
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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) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 1 (1) 0 (0) 18 (3)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
O'Roak BJ, 2012 1703 209 242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Turner TN, 2017 - Illumina X Ten --- 476 476 - 2064 Sanger sequencing
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018