AutismKB 2.0

Evidence Details for GUCY1A2


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Basic Information Top
Gene Symbol:GUCY1A2 ( GC-SA2,GUC1A2 )
Gene Full Name: guanylate cyclase 1, soluble, alpha 2
Band: 11q22.3
Quick LinksEntrez ID:2977; OMIM: 601244; Uniprot ID:GCYA2_HUMAN; ENSEMBL ID: ENSG00000152402; HGNC ID: 4684
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GUCY1A2|2977|nucleotide
ATGTCTCGAAGGAAGATTTCGTCCGAGTCCTTCAGCTCCCTGGGCTCCGACTACCTGGAGACCAGCCCGGAGGAGGAGGGGGAGTGCCCCCTGTCTAGGCTCTGC
TGGAATGGCAGCCGGAGCCCGCCCGGGCCGCTGGAGCCCAGCCCGGCCGCAGCTGCCGCTGCCGCCGCCCCGGCCCCGACCCCGGCTGCTTCTGCCGCCGCCGCC
GCTGCCACTGCCGGGGCCAGGAGGGTGCAGCGCCGGAGGCGGGTCAACCTGGACTCGCTGGGCGAGAGCATCAGCCGCCTGACGGCGCCCTCGCCTCAGACGATA
CAGCAGACTCTCAAGAGGACACTGCAGTATTATGAACATCAAGTTATTGGTTACAGGGATGCAGAAAAGAATTTCCACAATATCTCTAACAGATGCTCCTATGCA
GACCACTCCAACAAAGAAGAAATTGAAGATGTCTCAGGAATTCTTCAGTGTACTGCTAATATACTCGGTTTGAAGTTTGAGGAAATTCAAAAAAGATTTGGTGAA
GAGTTCTTTAATATATGCTTTCATGAGAATGAGAGAGTCCTTCGAGCTGTAGGTGGCACTTTGCAGGACTTTTTTAACGGCTTTGATGCTTTGTTGGAACACATT
AGAACTTCTTTTGGAAAACAGGCCACTCTGGAGTCACCATCTTTCCTATGCAAAGAGCTCCCTGAAGGTACTCTCATGCTCCACTACTTCCACCCTCACCATATT
GTGGGGTTTGCAATGCTGGGGATGATTAAGGCTGCAGGAAAGAAGATCTATCGGCTGGATGTGGAAGTGGAACAGGTTGCAAATGAGAAGCTATGCTCTGATGTT
TCAAACCCAGGCAATTGTAGCTGTCTTACTTTCCTTATCAAAGAATGTGAAAATACTAATATCATGAAGAACCTTCCACAGGGAACCTCCCAAGTTCCTGCGGAC
CTCAGAATTAGCATCAACACCTTCTGTAGAGCCTTCCCTTTCCACTTGATGTTTGATCCCAGCATGTCAGTCCTTCAGTTGGGGGAAGGTCTAAGGAAGCAGCTT
CGATGTGACACTCACAAAGTGCTCAAGTTTGAGGACTGCTTCGAGATTGTATCTCCAAAGGTTAATGCCACCTTTGAAAGGGTCCTGCTGCGACTGTCTACCCCG
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>GUCY1A2|2977|protein
MSRRKISSESFSSLGSDYLETSPEEEGECPLSRLCWNGSRSPPGPLEPSPAAAAAAAAPAPTPAASAAAAAATAGARRVQRRRRVNLDSLGESISRLTAPSPQTI
QQTLKRTLQYYEHQVIGYRDAEKNFHNISNRCSYADHSNKEEIEDVSGILQCTANILGLKFEEIQKRFGEEFFNICFHENERVLRAVGGTLQDFFNGFDALLEHI
RTSFGKQATLESPSFLCKELPEGTLMLHYFHPHHIVGFAMLGMIKAAGKKIYRLDVEVEQVANEKLCSDVSNPGNCSCLTFLIKECENTNIMKNLPQGTSQVPAD
LRISINTFCRAFPFHLMFDPSMSVLQLGEGLRKQLRCDTHKVLKFEDCFEIVSPKVNATFERVLLRLSTPFVIRTKPEASGSENKDKVMEVKGQMIHVPESNSIL
FLGSPCVDKLDELMGRGLHLSDIPIHDATRDVILVGEQAKAQDGLKKRMDKLKATLERTHQALEEEKKKTVDLLYSIFPGDVAQQLWQGQQVQARKFDDVTMLFS
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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 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 4 (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)
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