Evidence Details for HPCA
Basic Information Top
| Gene Symbol: | HPCA ( BDR2 ) |
|---|---|
| Gene Full Name: | hippocalcin |
| Band: | 1p35.1 |
| Quick Links | Entrez ID:3208; OMIM: 142622; Uniprot ID:HPCA_HUMAN; ENSEMBL ID: ENSG00000121905; HGNC ID: 5144 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>HPCA|3208|nucleotide
ATGGGCAAGCAGAACAGCAAGCTGCGGCCCGAGATGTTGCAGGACCTGCGAGAGAACACAGAGTTCTCAGAGCTGGAGCTGCAGGAGTGGTACAAGGGCTTCCTC
AAGGACTGCCCCACAGGAATCCTCAATGTGGATGAGTTCAAGAAGATCTACGCCAACTTCTTTCCCTATGGTGACGCCTCCAAGTTTGCCGAGCACGTCTTCCGC
ACCTTTGACACCAACAGCGATGGCACCATAGACTTTCGGGAGTTCATCATTGCGCTGAGCGTGACCTCGCGCGGCCGCCTGGAGCAGAAGCTCATGTGGGCCTTC
AGCATGTATGACCTGGACGGCAACGGCTACATCAGCCGGGAGGAGATGCTGGAGATCGTGCAGGCCATTTACAAGATGGTTTCGTCCGTGATGAAGATGCCGGAG
GACGAGTCGACCCCGGAAAAGAGGACTGAGAAAATCTTCCGCCAAATGGACACAAACAACGACGGCAAGCTGTCCTTGGAGGAGTTCATCCGCGGGGCCAAAAGC
GACCCGTCCATCGTGCGTCTGCTGCAGTGCGACCCCAGCAGCGCCTCCCAGTTCTGA
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ATGGGCAAGCAGAACAGCAAGCTGCGGCCCGAGATGTTGCAGGACCTGCGAGAGAACACAGAGTTCTCAGAGCTGGAGCTGCAGGAGTGGTACAAGGGCTTCCTC
AAGGACTGCCCCACAGGAATCCTCAATGTGGATGAGTTCAAGAAGATCTACGCCAACTTCTTTCCCTATGGTGACGCCTCCAAGTTTGCCGAGCACGTCTTCCGC
ACCTTTGACACCAACAGCGATGGCACCATAGACTTTCGGGAGTTCATCATTGCGCTGAGCGTGACCTCGCGCGGCCGCCTGGAGCAGAAGCTCATGTGGGCCTTC
AGCATGTATGACCTGGACGGCAACGGCTACATCAGCCGGGAGGAGATGCTGGAGATCGTGCAGGCCATTTACAAGATGGTTTCGTCCGTGATGAAGATGCCGGAG
GACGAGTCGACCCCGGAAAAGAGGACTGAGAAAATCTTCCGCCAAATGGACACAAACAACGACGGCAAGCTGTCCTTGGAGGAGTTCATCCGCGGGGCCAAAAGC
GACCCGTCCATCGTGCGTCTGCTGCAGTGCGACCCCAGCAGCGCCTCCCAGTTCTGA
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>HPCA|3208|protein
MGKQNSKLRPEMLQDLRENTEFSELELQEWYKGFLKDCPTGILNVDEFKKIYANFFPYGDASKFAEHVFRTFDTNSDGTIDFREFIIALSVTSRGRLEQKLMWAF
SMYDLDGNGYISREEMLEIVQAIYKMVSSVMKMPEDESTPEKRTEKIFRQMDTNNDGKLSLEEFIRGAKSDPSIVRLLQCDPSSASQF
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MGKQNSKLRPEMLQDLRENTEFSELELQEWYKGFLKDCPTGILNVDEFKKIYANFFPYGDASKFAEHVFRTFDTNSDGTIDFREFIIALSVTSRGRLEQKLMWAF
SMYDLDGNGYISREEMLEIVQAIYKMVSSVMKMPEDESTPEKRTEKIFRQMDTNNDGKLSLEEFIRGAKSDPSIVRLLQCDPSSASQF
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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 (0) | 0 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Lim ET, 2017 | - | 5947 | 376 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
NGS 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.