Evidence Details for LAMB4
Basic Information Top
| Gene Symbol: | LAMB4 ( - ) |
|---|---|
| Gene Full Name: | laminin, beta 4 |
| Band: | 7q31.1 |
| Quick Links | Entrez 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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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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MQFQLTLFLHLGWLSYSKAQDDCNRGACHPTTGDLLVGRNTQLMASSTCGLSRAQKYCILSYLEGEQKCFICDSRFPYDPYDQPNSHTIENVIVSFEPDREKKWW
QSENGLDHVSIRLDLEALFRFSHLILTFKTFRPAAMLVERSTDYGHNWKVFKYFAKDCATSFPNITSGQAQGVGDIVCDSKYSDIEPSTGGEVVLKVLDPSFEIE
NPYSPYIQDLVTLTNLRINFTKLHTLGDALLGRRQNDSLDKYYYALYEMIVRGSCFCNGHASECRPMQKMRGDVFSPPGMVHGQCVCQHNTDGPNCERCKDFFQD
APWRPAADLQDNACRSCSCNSHSSRCHFDMTTYLASGGLSGGVCEDCQHNTEGQHCDRCRPLFYRDPLKTISDPYACIPCECDPDGTISGGICVSHSDPALGSVA
GQCLCKENVEGAKCDQCKPNHYGLSATDPLGCQPCDCNPLGSLPFLTCDVDTGQCLCLSYVTGAHCEECTVGYWGLGNHLHGCSPCDCDIGGAYSNVCSPKNGQC
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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 TopGenome-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 TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Liu, 2001 | USA | microsatellite-based genomic screen | | | autism, ASD | 110 | - | 110 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS 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 TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.