Evidence Details for ACR
Basic Information Top
| Gene Symbol: | ACR ( - ) |
|---|---|
| Gene Full Name: | acrosin |
| Band: | 22q13.33 |
| Quick Links | Entrez ID:49; OMIM: 102480; Uniprot ID:ACRO_HUMAN; ENSEMBL ID: ENSG00000100312; HGNC ID: 126 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ACR|49|nucleotide
ATGGTTGAGATGCTACCAACTGCCATTCTGCTGGTCTTGGCAGTGTCCGTGGTTGCTAAAGATAACGCCACGTGTGATGGCCCCTGTGGGTTACGGTTCAGGCAA
AACCCACAGGGTGGTGTCCGCATCGTCGGCGGGAAGGCTGCACAGCATGGGGCCTGGCCCTGGATGGTCAGCCTCCAGATCTTCACGTACAACAGCCACAGGTAC
CACACATGTGGAGGCAGCTTGCTGAATTCACGATGGGTGCTCACTGCTGCTCACTGCTTCGTCGGCAAAAATAATGTGCATGACTGGAGACTGGTTTTCGGAGCA
AAGGAAATTACATATGGGAACAATAAACCAGTAAAGGCGCCTCTGCAAGAGAGATATGTGGAGAAAATCATCATTCATGAAAAATACAACTCTGCGACAGAGGGA
AATGACATTGCCCTCGTGGAGATCACCCCTCCCATTTCGTGTGGGCGCTTCATTGGGCCGGGCTGCCTGCCCCACTTTAAGGCAGGCCTCCCCAGAGGCTCCCAG
AGCTGCTGGGTGGCCGGCTGGGGATATATAGAAGAGAAAGCCCCCAGGCCATCATCTATACTGATGGAGGCACGTGTGGATCTCATCGACCTGGACTTGTGTAAC
TCGACCCAGTGGTACAATGGGCGCGTTCAGCCAACCAATGTGTGCGCGGGGTATCCTGTAGGCAAGATCGACACCTGCCAGGGAGACAGCGGCGGGCCTCTCATG
TGCAAAGACAGCAAGGAAAGCGCCTATGTGGTCGTGGGAATCACAAGCTGGGGGGTAGGCTGTGCCCGTGCCAAGCGCCCCGGAATCTACACGGCCACCTGGCCC
TATCTGAACTGGATCGCCTCCAAGATTGGTTCTAACGCTTTGCGTATGATTCAATCGGCCACCCCTCCACCTCCCACCACTCGACCGCCCCCGATTCGACCCCCC
TTCTCCCACCCTATCTCTGCTCACCTTCCTTGGTATTTCCAACCGCCCCCTCGACCACTTCCACCCCGACCACCGGCAGCCCAGCCCCGACCCCCACCTTCACCC
CCGCCCCCACCCCCACCTCCAGCCTCACCTTTACCCCCACCCCCACCCCCACCCCCACCTACACCCTCATCTACCACAAAACTTCCCCAAGGACTTTCTTTTGCC
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ATGGTTGAGATGCTACCAACTGCCATTCTGCTGGTCTTGGCAGTGTCCGTGGTTGCTAAAGATAACGCCACGTGTGATGGCCCCTGTGGGTTACGGTTCAGGCAA
AACCCACAGGGTGGTGTCCGCATCGTCGGCGGGAAGGCTGCACAGCATGGGGCCTGGCCCTGGATGGTCAGCCTCCAGATCTTCACGTACAACAGCCACAGGTAC
CACACATGTGGAGGCAGCTTGCTGAATTCACGATGGGTGCTCACTGCTGCTCACTGCTTCGTCGGCAAAAATAATGTGCATGACTGGAGACTGGTTTTCGGAGCA
AAGGAAATTACATATGGGAACAATAAACCAGTAAAGGCGCCTCTGCAAGAGAGATATGTGGAGAAAATCATCATTCATGAAAAATACAACTCTGCGACAGAGGGA
AATGACATTGCCCTCGTGGAGATCACCCCTCCCATTTCGTGTGGGCGCTTCATTGGGCCGGGCTGCCTGCCCCACTTTAAGGCAGGCCTCCCCAGAGGCTCCCAG
AGCTGCTGGGTGGCCGGCTGGGGATATATAGAAGAGAAAGCCCCCAGGCCATCATCTATACTGATGGAGGCACGTGTGGATCTCATCGACCTGGACTTGTGTAAC
TCGACCCAGTGGTACAATGGGCGCGTTCAGCCAACCAATGTGTGCGCGGGGTATCCTGTAGGCAAGATCGACACCTGCCAGGGAGACAGCGGCGGGCCTCTCATG
TGCAAAGACAGCAAGGAAAGCGCCTATGTGGTCGTGGGAATCACAAGCTGGGGGGTAGGCTGTGCCCGTGCCAAGCGCCCCGGAATCTACACGGCCACCTGGCCC
TATCTGAACTGGATCGCCTCCAAGATTGGTTCTAACGCTTTGCGTATGATTCAATCGGCCACCCCTCCACCTCCCACCACTCGACCGCCCCCGATTCGACCCCCC
TTCTCCCACCCTATCTCTGCTCACCTTCCTTGGTATTTCCAACCGCCCCCTCGACCACTTCCACCCCGACCACCGGCAGCCCAGCCCCGACCCCCACCTTCACCC
CCGCCCCCACCCCCACCTCCAGCCTCACCTTTACCCCCACCCCCACCCCCACCCCCACCTACACCCTCATCTACCACAAAACTTCCCCAAGGACTTTCTTTTGCC
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>ACR|49|protein
MVEMLPTAILLVLAVSVVAKDNATCDGPCGLRFRQNPQGGVRIVGGKAAQHGAWPWMVSLQIFTYNSHRYHTCGGSLLNSRWVLTAAHCFVGKNNVHDWRLVFGA
KEITYGNNKPVKAPLQERYVEKIIIHEKYNSATEGNDIALVEITPPISCGRFIGPGCLPHFKAGLPRGSQSCWVAGWGYIEEKAPRPSSILMEARVDLIDLDLCN
STQWYNGRVQPTNVCAGYPVGKIDTCQGDSGGPLMCKDSKESAYVVVGITSWGVGCARAKRPGIYTATWPYLNWIASKIGSNALRMIQSATPPPPTTRPPPIRPP
FSHPISAHLPWYFQPPPRPLPPRPPAAQPRPPPSPPPPPPPPASPLPPPPPPPPPTPSSTTKLPQGLSFAKRLQQLIEVLKGKTYSDGKNHYDMETTELPELTST
S
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MVEMLPTAILLVLAVSVVAKDNATCDGPCGLRFRQNPQGGVRIVGGKAAQHGAWPWMVSLQIFTYNSHRYHTCGGSLLNSRWVLTAAHCFVGKNNVHDWRLVFGA
KEITYGNNKPVKAPLQERYVEKIIIHEKYNSATEGNDIALVEITPPISCGRFIGPGCLPHFKAGLPRGSQSCWVAGWGYIEEKAPRPSSILMEARVDLIDLDLCN
STQWYNGRVQPTNVCAGYPVGKIDTCQGDSGGPLMCKDSKESAYVVVGITSWGVGCARAKRPGIYTATWPYLNWIASKIGSNALRMIQSATPPPPTTRPPPIRPP
FSHPISAHLPWYFQPPPRPLPPRPPAAQPRPPPSPPPPPPPPASPLPPPPPPPPPTPSSTTKLPQGLSFAKRLQQLIEVLKGKTYSDGKNHYDMETTELPELTST
S
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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) | 2 (8) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (8) |
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 | ||||||
| Goizet, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Prasad, 2000 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Chen, 2011 | - | FISH, aCGH | - | - | autism | - | - | - | - | 1 | - | 1 |
| Bremer, 2011 | - | aCGH | | | ASD | - | - | - | - | 223 | - | 223 |
Linkage Studies Top