Evidence Details for LAMA1
Basic Information Top
Gene Symbol: | LAMA1 ( LAMA ) |
---|---|
Gene Full Name: | laminin, alpha 1 |
Band: | 18p11.31 |
Quick Links | Entrez ID:284217; OMIM: 150320; Uniprot ID:LAMA1_HUMAN; ENSEMBL ID: ENSG00000101680; HGNC ID: 6481 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>LAMA1|284217|nucleotide
ATGCGCGGGGGCGTGCTCCTGGTCTTGCTGCTGTGTGTCGCCGCGCAGTGCCGGCAGAGAGGCCTGTTTCCTGCCATTCTCAATCTTGCCAGCAATGCTCACATC
AGCACCAATGCCACCTGTGGCGAGAAGGGGCCGGAGATGTTCTGCAAACTTGTGGAGCATGTGCCAGGTCGGCCCGTCCGAAACCCACAGTGCCGGATCTGTGAT
GGCAACAGCGCAAACCCCAGAGAACGCCATCCAATATCACATGCCATAGATGGCACCAATAACTGGTGGCAAAGTCCCAGCATTCAGAATGGGAGAGAATATCAC
TGGGTCACAATCACTCTGGACTTAAGACAGGTCTTTCAAGTTGCATATGTCATCATTAAAGCTGCCAATGCCCCTCGACCTGGAAACTGGATTTTGGAGCGTTCT
CTGGATGGCACCACGTTCAGCCCCTGGCAGTATTATGCAGTCAGCGACTCAGAGTGTTTGTCTCGTTACAATATAACTCCAAGACGAGGGCCACCCACCTACAGG
GCTGATGATGAAGTGATCTGCACCTCCTATTATTCCAGATTGGTGCCACTTGAGCATGGAGAGATTCATACATCACTCATCAATGGCAGACCAAGCGCTGACGAT
CTTTCACCCAAGTTGTTGGAATTCACTTCTGCACGATATATTCGCCTTCGCTTGCAACGCATTAGAACGCTCAATGCAGATCTCATGACCCTTAGCCACCGGGAA
CCTAAAGAACTGGATCCTATTGTTACCAGACGCTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCA
TGGGATGAAACTACAAAGAAACTGCAGTGTCAATGTGAGCATAATACTTGCGGGGAGAGCTGTAACAGGTGCTGTCCTGGGTACCATCAGCAGCCCTGGAGGCCG
GGAACCGTGTCCTCCGGCAATACATGTGAAGCATGTAATTGTCACAATAAAGCCAAAGACTGTTACTATGATGAAAGTGTTGCAAAGCAGAAGAAAAGTTTGAAT
ACTGCTGGACAGTTCAGAGGAGGAGGGGTTTGCATAAATTGCTTGCAGAACACCATGGGAATCAACTGTGAAACCTGTATTGATGGATATTATAGACCACACAAA
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ATGCGCGGGGGCGTGCTCCTGGTCTTGCTGCTGTGTGTCGCCGCGCAGTGCCGGCAGAGAGGCCTGTTTCCTGCCATTCTCAATCTTGCCAGCAATGCTCACATC
AGCACCAATGCCACCTGTGGCGAGAAGGGGCCGGAGATGTTCTGCAAACTTGTGGAGCATGTGCCAGGTCGGCCCGTCCGAAACCCACAGTGCCGGATCTGTGAT
GGCAACAGCGCAAACCCCAGAGAACGCCATCCAATATCACATGCCATAGATGGCACCAATAACTGGTGGCAAAGTCCCAGCATTCAGAATGGGAGAGAATATCAC
TGGGTCACAATCACTCTGGACTTAAGACAGGTCTTTCAAGTTGCATATGTCATCATTAAAGCTGCCAATGCCCCTCGACCTGGAAACTGGATTTTGGAGCGTTCT
CTGGATGGCACCACGTTCAGCCCCTGGCAGTATTATGCAGTCAGCGACTCAGAGTGTTTGTCTCGTTACAATATAACTCCAAGACGAGGGCCACCCACCTACAGG
GCTGATGATGAAGTGATCTGCACCTCCTATTATTCCAGATTGGTGCCACTTGAGCATGGAGAGATTCATACATCACTCATCAATGGCAGACCAAGCGCTGACGAT
CTTTCACCCAAGTTGTTGGAATTCACTTCTGCACGATATATTCGCCTTCGCTTGCAACGCATTAGAACGCTCAATGCAGATCTCATGACCCTTAGCCACCGGGAA
CCTAAAGAACTGGATCCTATTGTTACCAGACGCTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCA
TGGGATGAAACTACAAAGAAACTGCAGTGTCAATGTGAGCATAATACTTGCGGGGAGAGCTGTAACAGGTGCTGTCCTGGGTACCATCAGCAGCCCTGGAGGCCG
GGAACCGTGTCCTCCGGCAATACATGTGAAGCATGTAATTGTCACAATAAAGCCAAAGACTGTTACTATGATGAAAGTGTTGCAAAGCAGAAGAAAAGTTTGAAT
ACTGCTGGACAGTTCAGAGGAGGAGGGGTTTGCATAAATTGCTTGCAGAACACCATGGGAATCAACTGTGAAACCTGTATTGATGGATATTATAGACCACACAAA
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>LAMA1|284217|protein
MRGGVLLVLLLCVAAQCRQRGLFPAILNLASNAHISTNATCGEKGPEMFCKLVEHVPGRPVRNPQCRICDGNSANPRERHPISHAIDGTNNWWQSPSIQNGREYH
WVTITLDLRQVFQVAYVIIKAANAPRPGNWILERSLDGTTFSPWQYYAVSDSECLSRYNITPRRGPPTYRADDEVICTSYYSRLVPLEHGEIHTSLINGRPSADD
LSPKLLEFTSARYIRLRLQRIRTLNADLMTLSHREPKELDPIVTRRYYYSIKDISVGGMCICYGHASSCPWDETTKKLQCQCEHNTCGESCNRCCPGYHQQPWRP
GTVSSGNTCEACNCHNKAKDCYYDESVAKQKKSLNTAGQFRGGGVCINCLQNTMGINCETCIDGYYRPHKVSPYEDEPCRPCNCDPVGSLSSVCIKDDLHSDLHN
GKQPGQCPCKEGYTGEKCDRCQLGYKDYPTCVSCGCNPVGSASDEPCTGPCVCKENVEGKACDRCKPGFYNLKEKNPRGCSECFCFGVSDVCSSLSWPVGQVNSM
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MRGGVLLVLLLCVAAQCRQRGLFPAILNLASNAHISTNATCGEKGPEMFCKLVEHVPGRPVRNPQCRICDGNSANPRERHPISHAIDGTNNWWQSPSIQNGREYH
WVTITLDLRQVFQVAYVIIKAANAPRPGNWILERSLDGTTFSPWQYYAVSDSECLSRYNITPRRGPPTYRADDEVICTSYYSRLVPLEHGEIHTSLINGRPSADD
LSPKLLEFTSARYIRLRLQRIRTLNADLMTLSHREPKELDPIVTRRYYYSIKDISVGGMCICYGHASSCPWDETTKKLQCQCEHNTCGESCNRCCPGYHQQPWRP
GTVSSGNTCEACNCHNKAKDCYYDESVAKQKKSLNTAGQFRGGGVCINCLQNTMGINCETCIDGYYRPHKVSPYEDEPCRPCNCDPVGSLSSVCIKDDLHSDLHN
GKQPGQCPCKEGYTGEKCDRCQLGYKDYPTCVSCGCNPVGSASDEPCTGPCVCKENVEGKACDRCKPGFYNLKEKNPRGCSECFCFGVSDVCSSLSWPVGQVNSM
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Evidence summary Top
Click 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 | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 6 (4) |
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) |
||||||
MIXED/OTHERS | |||||||||||
Anney R, 2012_2 | - | Illumina Infinium 1M-single SNP microarray; Illumina 1M-duo microarray | 2705 | - (-) | 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
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Shao, 2002 | USA | microsatellite-based genomic screen | autism | 52 | - | 52 | - | 112 | - | - |
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 |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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