AutismKB 2.0

Evidence Details for LASS6


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Basic Information Top
Gene Symbol:LASS6 ( CerS6,MGC129949,MGC129950 )
Gene Full Name: LAG1 homolog, ceramide synthase 6
Band: 2q24.3
Quick LinksEntrez ID:253782; OMIM: NA; Uniprot ID:LASS6_HUMAN; ENSEMBL ID: ENSG00000172292; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LASS6|253782|nucleotide
ATGGCAGGGATCTTAGCCTGGTTCTGGAACGAGAGGTTTTGGCTCCCGCACAATGTCACCTGGGCGGACCTGAAGAACACGGAGGAGGCCACCTTCCCGCAGGCT
GAGGACCTCTATCTCGCTTTTCCCCTGGCCTTCTGTATCTTCATGGTGCGGCTCATCTTCGAGAGATTTGTAGCCAAACCGTGCGCCATAGCCCTCAACATTCAG
GCCAATGGACCACAAATTGCTCCGCCCAATGCCATTCTGGAAAAGGTCTTCACTGCAATTACAAAGCATCCTGATGAAAAGAGATTGGAAGGCCTCTCCAAGCAA
CTGGACTGGGATGTTCGAAGCATTCAGCGCTGGTTTCGACAAAGACGCAATCAGGAGAAGCCAAGCACGCTGACGAGGTTCTGTGAGAGCATGTGGAGATTTTCA
TTTTACCTTTATGTATTTACCTACGGAGTCAGATTCCTGAAAAAGACCCCCTGGTTGTGGAATACGAGGCATTGCTGGTACAACTACCCCTATCAGCCACTCACA
ACTGACCTTCACTACTATTACATCCTGGAGCTGTCGTTTTATTGGTCTTTGATGTTTTCTCAGTTCACTGATATCAAAAGAAAGGACTTTGGCATTATGTTCCTG
CACCACCTTGTATCTATTTTCTTGATTACCTTTTCATATGTCAACAATATGGCCCGAGTAGGAACGCTGGTCCTTTGTCTTCATGATTCAGCTGATGCTCTTCTG
GAGGCTGCCAAAATGGCAAATTATGCCAAGTTTCAGAAAATGTGTGATCTCCTGTTTGTTATGTTTGCCGTGGTTTTTATCACCACACGACTGGGTATATTTCCT
CTCTGGGTGTTAAATACCACATTATTTGAAAGCTGGGAGATCGTTGGACCTTACCCTTCCTGGTGGGTTTTTAACCTACTGCTATTGCTAGTACAAGGGTTGAAC
TGCTTCTGGTCTTACTTGATTGTGAAAATAGCTTGCAAAGCTGTTTCAAGAGGCAAGGTGTCCAAGGATGATCGAAGTGATATTGAGTCTAGCTCAGATGAGGAG
GACTCAGAACCTCCGGGAAAGAATCCCCACACTGCGACAACCACCAATGGGACCAGTGGTACCAACGGGTATCTCCTGACTGGCTCCTGCTCCATGGATGATTAA
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>LASS6|253782|protein
MAGILAWFWNERFWLPHNVTWADLKNTEEATFPQAEDLYLAFPLAFCIFMVRLIFERFVAKPCAIALNIQANGPQIAPPNAILEKVFTAITKHPDEKRLEGLSKQ
LDWDVRSIQRWFRQRRNQEKPSTLTRFCESMWRFSFYLYVFTYGVRFLKKTPWLWNTRHCWYNYPYQPLTTDLHYYYILELSFYWSLMFSQFTDIKRKDFGIMFL
HHLVSIFLITFSYVNNMARVGTLVLCLHDSADALLEAAKMANYAKFQKMCDLLFVMFAVVFITTRLGIFPLWVLNTTLFESWEIVGPYPSWWVFNLLLLLVQGLN
CFWSYLIVKIACKAVSRGKVSKDDRSDIESSSDEEDSEPPGKNPHTATTTNGTSGTNGYLLTGSCSMDD

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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top