AutismKB 2.0

Evidence Details for LRRTM2


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Basic Information Top
Gene Symbol:LRRTM2 ( FLJ76283,FLJ99831 )
Gene Full Name: leucine rich repeat transmembrane neuronal 2
Band: 5q31.2
Quick LinksEntrez ID:26045; OMIM: 610868; Uniprot ID:LRRT2_HUMAN; ENSEMBL ID: ENSG00000146006; HGNC ID: 19409
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LRRTM2|26045|nucleotide
ATGGGCTTACATTTCAAGTGGCCATTAGGGGCCCCTATGCTGGCAGCAATATATGCAATGAGTATGGTTTTAAAAATGCTGCCTGCCCTGGGTATGGCGTGTCCA
CCCAAATGCCGCTGCGAGAAGCTGCTCTTCTACTGCGACTCTCAGGGCTTCCACTCAGTGCCAAACGCCACAGACAAGGGCTCTCTGGGCCTGTCCCTGAGGCAC
AATCACATCACAGAGCTCGAAAGAGATCAATTTGCCAGCTTCAGTCAACTTACTTGGCTCCACTTAGATCACAATCAAATTTCAACAGTAAAAGAAGATGCTTTT
CAAGGACTATATAAACTTAAGGAATTAATCTTAAGTTCCAACAAAATATTTTACTTGCCAAACACAACTTTTACCCAACTGATTAACCTGCAAAATTTGGACCTG
TCTTTTAATCAGCTGTCATCTCTGCACCCAGAGCTCTTCTATGGCCTTCGGAAGCTGCAGACCTTGCATTTACGTTCCAACTCCCTGCGGACTATCCCAGTACGC
CTGTTCTGGGACTGTCGTAGTCTGGAGTTTCTGGATTTGAGCACAAATCGTTTGCGAAGTTTGGCTCGCAATGGATTTGCAGGATTAATTAAACTGAGAGAGCTT
CACCTAGAGCACAACCAGCTGACGAAGATTAATTTTGCTCATTTCCTACGGCTAAGCAGTCTGCACACGCTCTTCTTACAATGGAACAAAATCAGCAACTTGACA
TGTGGGATGGAGTGGACCTGGGGCACTTTAGAAAAGCTAGACCTGACTGGAAATGAAATCAAAGCCATCGACTTGACAGTGTTTGAAACGATGCCCAATCTTAAA
ATACTCCTCATGGATAACAACAAGTTAAACAGCCTTGATTCCAAGATCTTAAACTCCCTGAGATCCCTCACAACCGTTGGTCTCTCTGGCAATCTGTGGGAATGC
AGCGCCCGAATATGTGCTCTGGCCTCCTGGCTGGGCAGTTTCCAAGGTCGGTGGGAACACTCCATCCTATGCCACAGTCCTGACCACACCCAAGGAGAGGATATT
CTAGATGCAGTCCATGGATTTCAGCTCTGCTGGAATTTGTCAACCACTGTCACTGTCATGGCTACAACTTATAGAGATCCAACCACTGAATATACAAAAAGAATA
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>LRRTM2|26045|protein
MGLHFKWPLGAPMLAAIYAMSMVLKMLPALGMACPPKCRCEKLLFYCDSQGFHSVPNATDKGSLGLSLRHNHITELERDQFASFSQLTWLHLDHNQISTVKEDAF
QGLYKLKELILSSNKIFYLPNTTFTQLINLQNLDLSFNQLSSLHPELFYGLRKLQTLHLRSNSLRTIPVRLFWDCRSLEFLDLSTNRLRSLARNGFAGLIKLREL
HLEHNQLTKINFAHFLRLSSLHTLFLQWNKISNLTCGMEWTWGTLEKLDLTGNEIKAIDLTVFETMPNLKILLMDNNKLNSLDSKILNSLRSLTTVGLSGNLWEC
SARICALASWLGSFQGRWEHSILCHSPDHTQGEDILDAVHGFQLCWNLSTTVTVMATTYRDPTTEYTKRISSSSYHVGDKEIPTTAGIAVTTEEHFPEPDNAIFT
QRVITGTMALLFSFFFIIFIVFISRKCCPPTLRRIRQCSMVQNHRQLRSQTRLHMSNMSDQGPYNEYEPTHEGPFIIINGYGQCKCQQLPYKECEV
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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
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
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