AutismKB 2.0

Evidence Details for LAMB4


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Basic Information Top
Gene Symbol:LAMB4 ( - )
Gene Full Name: laminin, beta 4
Band: 7q31.1
Quick LinksEntrez ID:22798; OMIM: NA; Uniprot ID:LAMB4_HUMAN; ENSEMBL ID: ENSG00000091128; HGNC ID: 6491
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LAMB4|22798|nucleotide
ATGCAATTTCAACTGACCCTTTTTTTGCACCTTGGGTGGCTCAGTTACTCAAAAGCTCAAGATGACTGCAACAGGGGTGCCTGTCATCCCACCACTGGTGATCTC
CTGGTGGGCAGGAACACGCAGCTTATGGCTTCTTCTACCTGTGGGCTGAGCAGAGCCCAGAAATACTGCATCCTCAGTTACCTGGAGGGGGAACAAAAATGCTTC
ATCTGTGACTCTAGATTTCCATATGATCCGTATGACCAACCCAACAGCCACACCATTGAGAATGTCATTGTAAGTTTTGAACCAGACAGAGAAAAGAAATGGTGG
CAATCTGAAAATGGTCTTGATCATGTCAGCATCAGACTGGACTTAGAGGCATTATTTCGGTTCAGCCACCTTATCCTGACCTTTAAGACTTTTCGGCCTGCTGCA
ATGTTAGTTGAACGTTCCACAGACTATGGACACAACTGGAAAGTGTTCAAATATTTTGCAAAAGACTGTGCCACTTCCTTTCCTAACATCACATCTGGCCAGGCC
CAGGGAGTGGGAGACATTGTTTGTGACTCCAAATACTCGGATATTGAACCCTCAACAGGTGGAGAGGTTGTTTTAAAAGTTTTGGATCCCAGTTTTGAAATTGAA
AACCCTTATAGCCCCTACATCCAAGACCTTGTGACATTGACAAACCTGAGGATAAACTTTACCAAGCTCCACACCCTTGGGGATGCTTTGCTTGGAAGGAGGCAA
AATGATTCCCTTGATAAATACTACTATGCTCTGTACGAGATGATTGTTCGGGGAAGCTGCTTTTGCAATGGCCATGCTAGCGAATGTCGCCCTATGCAGAAGATG
CGGGGAGATGTTTTCAGCCCTCCTGGAATGGTTCACGGTCAGTGTGTGTGTCAGCACAATACAGATGGTCCGAACTGTGAGAGATGCAAGGACTTCTTCCAGGAT
GCTCCTTGGAGGCCAGCTGCAGACCTCCAGGACAACGCTTGCAGATCGTGCAGCTGTAATAGCCACTCCAGCCGCTGTCACTTTGACATGACTACGTACCTGGCA
AGCGGTGGCCTCAGCGGGGGCGTGTGTGAAGACTGCCAGCACAACACTGAGGGGCAGCACTGCGACCGCTGCAGACCCCTCTTCTACAGGGACCCGCTCAAGACC
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>LAMB4|22798|protein
MQFQLTLFLHLGWLSYSKAQDDCNRGACHPTTGDLLVGRNTQLMASSTCGLSRAQKYCILSYLEGEQKCFICDSRFPYDPYDQPNSHTIENVIVSFEPDREKKWW
QSENGLDHVSIRLDLEALFRFSHLILTFKTFRPAAMLVERSTDYGHNWKVFKYFAKDCATSFPNITSGQAQGVGDIVCDSKYSDIEPSTGGEVVLKVLDPSFEIE
NPYSPYIQDLVTLTNLRINFTKLHTLGDALLGRRQNDSLDKYYYALYEMIVRGSCFCNGHASECRPMQKMRGDVFSPPGMVHGQCVCQHNTDGPNCERCKDFFQD
APWRPAADLQDNACRSCSCNSHSSRCHFDMTTYLASGGLSGGVCEDCQHNTEGQHCDRCRPLFYRDPLKTISDPYACIPCECDPDGTISGGICVSHSDPALGSVA
GQCLCKENVEGAKCDQCKPNHYGLSATDPLGCQPCDCNPLGSLPFLTCDVDTGQCLCLSYVTGAHCEECTVGYWGLGNHLHGCSPCDCDIGGAYSNVCSPKNGQC
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Maestrini, 2009_2 Discovery GoldenGate assay (Illumina, San Diego, CA, USA) 127 127
(-)		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