AutismKB 2.0

Evidence Details for CSF3R


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Basic Information Top
Gene Symbol:CSF3R ( CD114,GCSFR )
Gene Full Name: colony stimulating factor 3 receptor (granulocyte)
Band: 1p34.3
Quick LinksEntrez ID:1441; OMIM: 138971; Uniprot ID:CSF3R_HUMAN; ENSEMBL ID: ENSG00000119535; HGNC ID: 2439
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CSF3R|1441|nucleotide
ATGGCAAGGCTGGGAAACTGCAGCCTGACTTGGGCTGCCCTGATCATCCTGCTGCTCCCCGGAAGTCTGGAGGAGTGCGGGCACATCAGTGTCTCAGCCCCCATC
GTCCACCTGGGGGATCCCATCACAGCCTCCTGCATCATCAAGCAGAACTGCAGCCATCTGGACCCGGAGCCACAGATTCTGTGGAGACTGGGAGCAGAGCTTCAG
CCCGGGGGCAGGCAGCAGCGTCTGTCTGATGGGACCCAGGAATCTATCATCACCCTGCCCCACCTCAACCACACTCAGGCCTTTCTCTCCTGCTGCCTGAACTGG
GGCAACAGCCTGCAGATCCTGGACCAGGTTGAGCTGCGCGCAGGCTACCCTCCAGCCATACCCCACAACCTCTCCTGCCTCATGAACCTCACAACCAGCAGCCTC
ATCTGCCAGTGGGAGCCAGGACCTGAGACCCACCTACCCACCAGCTTCACTCTGAAGAGTTTCAAGAGCCGGGGCAACTGTCAGACCCAAGGGGACTCCATCCTG
GACTGCGTGCCCAAGGACGGGCAGAGCCACTGCTGCATCCCACGCAAACACCTGCTGTTGTACCAGAATATGGGCATCTGGGTGCAGGCAGAGAATGCGCTGGGG
ACCAGCATGTCCCCACAACTGTGTCTTGATCCCATGGATGTTGTGAAACTGGAGCCCCCCATGCTGCGGACCATGGACCCCAGCCCTGAAGCGGCCCCTCCCCAG
GCAGGCTGCCTACAGCTGTGCTGGGAGCCATGGCAGCCAGGCCTGCACATAAATCAGAAGTGTGAGCTGCGCCACAAGCCGCAGCGTGGAGAAGCCAGCTGGGCA
CTGGTGGGCCCCCTCCCCTTGGAGGCCCTTCAGTATGAGCTCTGCGGGCTCCTCCCAGCCACGGCCTACACCCTGCAGATACGCTGCATCCGCTGGCCCCTGCCT
GGCCACTGGAGCGACTGGAGCCCCAGCCTGGAGCTGAGAACTACCGAACGGGCCCCCACTGTCAGACTGGACACATGGTGGCGGCAGAGGCAGCTGGACCCCAGG
ACAGTGCAGCTGTTCTGGAAGCCAGTGCCCCTGGAGGAAGACAGCGGACGGATCCAAGGTTATGTGGTTTCTTGGAGACCCTCAGGCCAGGCTGGGGCCATCCTG
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>CSF3R|1441|protein
MARLGNCSLTWAALIILLLPGSLEECGHISVSAPIVHLGDPITASCIIKQNCSHLDPEPQILWRLGAELQPGGRQQRLSDGTQESIITLPHLNHTQAFLSCCLNW
GNSLQILDQVELRAGYPPAIPHNLSCLMNLTTSSLICQWEPGPETHLPTSFTLKSFKSRGNCQTQGDSILDCVPKDGQSHCCIPRKHLLLYQNMGIWVQAENALG
TSMSPQLCLDPMDVVKLEPPMLRTMDPSPEAAPPQAGCLQLCWEPWQPGLHINQKCELRHKPQRGEASWALVGPLPLEALQYELCGLLPATAYTLQIRCIRWPLP
GHWSDWSPSLELRTTERAPTVRLDTWWRQRQLDPRTVQLFWKPVPLEEDSGRIQGYVVSWRPSGQAGAILPLCNTTELSCTFHLPSEAQEVALVAYNSAGTSRPT
PVVFSESRGPALTRLHAMARDPHSLWVGWEPPNPWPQGYVIEWGLGPPSASNSNKTWRMEQNGRATGFLLKENIRPFQLYEIIVTPLYQDTMGPSQHVYAYSQEM
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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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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