AutismKB 2.0

Evidence Details for LANCL1


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Basic Information Top
Gene Symbol:LANCL1 ( GPR69A,p40 )
Gene Full Name: LanC lantibiotic synthetase component C-like 1 (bacterial)
Band: 2q34
Quick LinksEntrez ID:10314; OMIM: 604155; Uniprot ID:LANC1_HUMAN; ENSEMBL ID: ENSG00000115365; HGNC ID: 6508
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LANCL1|10314|nucleotide
ATGGCTCAAAGGGCCTTCCCGAATCCTTATGCTGATTATAACAAATCCCTGGCCGAAGGCTACTTTGATGCTGCCGGGAGGCTGACTCCTGAGTTCTCACAACGC
TTGACCAATAAGATTCGGGAGCTTCTTCAGCAAATGGAGAGAGGCCTGAAATCAGCAGACCCTCGGGATGGCACCGGTTACACTGGCTGGGCAGGTATTGCTGTG
CTTTACTTACATCTTTATGATGTATTTGGGGACCCTGCCTACCTACAGTTAGCACATGGCTATGTAAAGCAAAGTCTGAACTGCTTAACCAAGCGCTCCATCACC
TTCCTTTGTGGGGATGCAGGCCCCCTGGCAGTGGCCGCTGTGCTATATCACAAGATGAACAATGAGAAGCAGGCAGAAGATTGCATCACACGGCTAATTCACCTA
AATAAGATTGATCCTCATGCTCCAAATGAAATGCTCTATGGGCGAATAGGCTACATCTATGCTCTTCTTTTTGTCAATAAGAACTTTGGAGTGGAAAAGATTCCT
CAAAGCCATATTCAGCAGATTTGTGAAACAATTTTAACCTCTGGAGAAAACCTAGCTAGGAAGAGAAACTTCACGGCAAAGTCTCCACTGATGTATGAATGGTAC
CAGGAATATTATGTAGGGGCTGCTCATGGCCTGGCTGGAATTTATTACTACCTGATGCAGCCCAGCCTTCAAGTGAGCCAAGGGAAGTTACATAGTTTGGTCAAG
CCCAGTGTAGACTACGTCTGCCAGCTGAAATTCCCTTCTGGCAATTACCCTCCATGTATAGGTGATAATCGAGATCTGCTTGTCCATTGGTGCCATGGCGCCCCT
GGGGTAATCTACATGCTCATCCAGGCCTATAAGGTATTCAGAGAGGAAAAGTATCTCTGTGATGCCTATCAGTGTGCTGATGTGATCTGGCAATATGGGTTGCTG
AAGAAGGGATATGGGCTGTGCCACGGTTCTGCAGGGAATGCCTATGCCTTCCTGACACTCTACAACCTCACACAGGACATGAAGTACCTGTATAGGGCCTGTAAG
TTTGCTGAATGGTGCTTAGAGTATGGAGAACATGGATGCAGAACACCAGACACCCCTTTCTCTCTCTTTGAAGGAATGGCTGGAACAATATATTTCCTGGCTGAC
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>LANCL1|10314|protein
MAQRAFPNPYADYNKSLAEGYFDAAGRLTPEFSQRLTNKIRELLQQMERGLKSADPRDGTGYTGWAGIAVLYLHLYDVFGDPAYLQLAHGYVKQSLNCLTKRSIT
FLCGDAGPLAVAAVLYHKMNNEKQAEDCITRLIHLNKIDPHAPNEMLYGRIGYIYALLFVNKNFGVEKIPQSHIQQICETILTSGENLARKRNFTAKSPLMYEWY
QEYYVGAAHGLAGIYYYLMQPSLQVSQGKLHSLVKPSVDYVCQLKFPSGNYPPCIGDNRDLLVHWCHGAPGVIYMLIQAYKVFREEKYLCDAYQCADVIWQYGLL
KKGYGLCHGSAGNAYAFLTLYNLTQDMKYLYRACKFAEWCLEYGEHGCRTPDTPFSLFEGMAGTIYFLADLLVPTKARFPAFEL

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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) 1 (3) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (4)
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
Pescucci, 2003 - STS mappingautism - - - - 1 - 1
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Jang DH, 2015 - aCGH--autistic - - - - 1 - 1
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Baron, 2006_1 America human EBV-transformed lymphoblastoid cell lines 3
(33.33%)
-autism 3
(33.33%)
1.3 Up 0.02
  • Platform: Human Genome GeneChip U95Av2 (HG-U95Av2, Affymetrix Inc., Santa Clara, CA)
  • ProbeSet: 39441_at
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: t-test using the bootstrap method, food changes
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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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