AutismKB 2.0

Evidence Details for MSLNL


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Basic Information Top
Gene Symbol:MSLNL ( C16orf37,MPFL )
Gene Full Name: mesothelin-like
Band: 16p13.3
Quick LinksEntrez ID:401827; OMIM: NA; Uniprot ID:MSLNL_HUMAN; ENSEMBL ID: ENSG00000162006; HGNC ID: 14170
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MSLNL|401827|nucleotide
ATGGAGGTGAGCGGGGACCCCGGCATCCCCGCCCTGCACCGCCTCTGCACCCGGGCGCTCAGTGCTAGTCCTGGACCCACTGCCCTTGGCCCCAGCACCTTCCTG
CCCTGGGACGTCTCAGCCAGGATGACCAGTGCACGCCGCCGCACAGACGTGGGCCCCAGAGTGGCTTTCACCTACCCGTGCACACAGCTGTCACCTACCCGTGCA
CACCGTCACCTACCCGTGCACACCGTCACCTACCCGTGCACACAGCTGTCACCTACCCGTGCACACAGCTGTCACCTACCCATGCACACTGTAACCTACCCGTGC
ACACCATCACCTACACGTGCACACAGCTGTCACCTACCTGTGCACACTGTCACCTACACGTGCACACTGTCACCTACACATGCGTGCCTGCACGCATCCACAGTC
TCATGCCTGTGCTGTATACCCGTGCACACTGTCACCTACCCGTGCACACTGTCACCTACATGTGCACACTGTCACCTACACATGCGTGCCCGCACGCATCCACAG
CCTCATGCCTGTGCTGTATACCTGTGCATACTGTCACCTACCCGTGCACACTGTCACTTACACGTGCACACTGTCACCTACATGTGCGTGCCTGCATGCACCCAC
AGCATCACGCCTGTGCATGCTCCACCAGACACGTCCTGCGCTTGGGCCCAGGCTGTGCACAGGTGGCCAGTGCTGTGGGGCTCCAGAAGTTCCTCCATGTCCTCT
GGCCTCAAGCAGACCCCCATGGTGGGGGTCACAGGTCCACCCTGGGACCCGGATGCCCCGGCCCCTGCTCCCGCCGGGACCCTCACAGCCCACCTTATTCCAGGT
GCCCTGCAGAGCTCAGGCCTCACCCTCCTGCTGTCCCTTGCTGCCCACTGCTCTGGGCCCCAGGCCAAGGTTCTTTCCCCAGGAGGGCTGGATGCCAGCGGGGCC
AACCTGTGGGCCAGTGCCAACTGCTCCCTGCTGCAAGGCTTCTGGTGCCAGCCGGCCAGCCAGCTGCCCCGGGACCAGCTCTCAGCCCTAATCCAGAGGCTGGCC
TTGCTGCAGGTCCCCCTCCAGGCCTGGCAGGTGAGCGGGAAGGAGTGCAGAGGGGCAGGCACGGGTGGCCGTGGGGATGACCCGACATGTGGGAAACGGGGCCGA
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>MSLNL|401827|protein
MEVSGDPGIPALHRLCTRALSASPGPTALGPSTFLPWDVSARMTSARRRTDVGPRVAFTYPCTQLSPTRAHRHLPVHTVTYPCTQLSPTRAHSCHLPMHTVTYPC
TPSPTRAHSCHLPVHTVTYTCTLSPTHACLHASTVSCLCCIPVHTVTYPCTLSPTCAHCHLHMRARTHPQPHACAVYLCILSPTRAHCHLHVHTVTYMCVPACTH
SITPVHAPPDTSCAWAQAVHRWPVLWGSRSSSMSSGLKQTPMVGVTGPPWDPDAPAPAPAGTLTAHLIPGALQSSGLTLLLSLAAHCSGPQAKVLSPGGLDASGA
NLWASANCSLLQGFWCQPASQLPRDQLSALIQRLALLQVPLQAWQVSGKECRGAGTGGRGDDPTCGKRGREVGGDWGLRPPQRGRAPTGCHGESRVTRERRSAQL
SCLANLASRCGLQDDFTLHPPNLLLFYNLSQVREADCRAFIRRAAQGDVELLSHLPDQRVALWRAAVACLVGAGWGWARCIGGSLPLGADLLALQGVARLRLSAS
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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 (3) 1 (2) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (6)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
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
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
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