Evidence Details for ABI3BP


Gene Symbol: | ABI3BP ( FLJ41743,FLJ41754,NESHBP,TARSH ) |
---|---|
Gene Full Name: | ABI family, member 3 (NESH) binding protein |
Band: | 3q12.2 |
Quick Links | Entrez ID:25890; OMIM: 606279; Uniprot ID:TARSH_HUMAN; ENSEMBL ID: ENSG00000154175; HGNC ID: 17265 |
Relate to Another Database: | SFARIGene; denovo-db |


>ABI3BP|25890|nucleotide
ATGCGAGGTGGCAAATGCAACATGCTCTCCAGTTTGGGGTGTCTACTTCTCTGTGGAAGTATTACACTAGCCCTGGGAAATGCACAGAAATTGCCAAAAGGTAAA
AGGCCAAACCTCAAAGTCCACATCAATACCACAAGTGACTCCATCCTCTTGAAGTTCTTGCGTCCAAGTCCAAATGTAAAGCTTGAAGGTCTTCTCCTGGGATAT
GGCAGCAATGTATCACCAAACCAGTACTTCCCTCTTCCCGCTGAAGGGAAATTCACAGAAGCTATAGTTGATGCAGAGCCGAAATATCTGATAGTTGTGCGACCT
GCTCCACCTCCAAGTCAAAAGAAGTCATGTTCAGGTAAAACTCGTTCTCGCAAACCTCTGCAGCTGGTGGTTGGCACTCTGACACCGAGCTCGGTCTTCCTGTCC
TGGGGTTTCCTCATCAACCCACACCATGACTGGACATTGCCAAGTCACTGTCCCAATGACAGATTTTATACAATTCGCTATCGAGAAAAGGATAAAGAAAAGAAG
TGGATTTTTCAAATCTGTCCAGCCACTGAAACAATTGTGGAAAACCTAAAGCCCAACACAGTTTATGAATTTGGAGTGAAAGACAATGTGGAAGGTGGAATTTGG
AGTAAGATTTTCAATCACAAGACTGTTGTTGGAAGTAAAAAAGTAAATGGGAAAATCCAAAGTACCTATGACCAAGACCACACAGTGCCAGCATATGTCCCAAGG
AAACTAATCCCAATAACAATCATCAAGCAAGTGATTCAGAATGTTACTCACAAGGATTCAGCTAAATCCCCAGAAAAAGCTCCACTGGGAGGAGTGATACTAGTC
CACCTTATTATTCCAGGTCTTAATGAAACTACTGTAAAACTTCCTGCATCCCTAATGTTTGAGATTTCAGATGCACTCAAGACACAATTAGCTAAGAATGAAACC
TTGGCATTACCTGCCGAATCTAAAACACCAGAGGTTGAAAAAATCTCAGCACGACCCACAACAGTGACTCCTGAAACAGTTCCAAGAAGCACTAAACCCACTACG
TCTAGTGCATTAGATGTTTCAGAAACAACACTGGCTTCAAGTGAAAAGCCATGGATTGTGCCTACAGCTAAAATATCTGAAGATTCCAAAGTTCTGCAGCCTCAA
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ATGCGAGGTGGCAAATGCAACATGCTCTCCAGTTTGGGGTGTCTACTTCTCTGTGGAAGTATTACACTAGCCCTGGGAAATGCACAGAAATTGCCAAAAGGTAAA
AGGCCAAACCTCAAAGTCCACATCAATACCACAAGTGACTCCATCCTCTTGAAGTTCTTGCGTCCAAGTCCAAATGTAAAGCTTGAAGGTCTTCTCCTGGGATAT
GGCAGCAATGTATCACCAAACCAGTACTTCCCTCTTCCCGCTGAAGGGAAATTCACAGAAGCTATAGTTGATGCAGAGCCGAAATATCTGATAGTTGTGCGACCT
GCTCCACCTCCAAGTCAAAAGAAGTCATGTTCAGGTAAAACTCGTTCTCGCAAACCTCTGCAGCTGGTGGTTGGCACTCTGACACCGAGCTCGGTCTTCCTGTCC
TGGGGTTTCCTCATCAACCCACACCATGACTGGACATTGCCAAGTCACTGTCCCAATGACAGATTTTATACAATTCGCTATCGAGAAAAGGATAAAGAAAAGAAG
TGGATTTTTCAAATCTGTCCAGCCACTGAAACAATTGTGGAAAACCTAAAGCCCAACACAGTTTATGAATTTGGAGTGAAAGACAATGTGGAAGGTGGAATTTGG
AGTAAGATTTTCAATCACAAGACTGTTGTTGGAAGTAAAAAAGTAAATGGGAAAATCCAAAGTACCTATGACCAAGACCACACAGTGCCAGCATATGTCCCAAGG
AAACTAATCCCAATAACAATCATCAAGCAAGTGATTCAGAATGTTACTCACAAGGATTCAGCTAAATCCCCAGAAAAAGCTCCACTGGGAGGAGTGATACTAGTC
CACCTTATTATTCCAGGTCTTAATGAAACTACTGTAAAACTTCCTGCATCCCTAATGTTTGAGATTTCAGATGCACTCAAGACACAATTAGCTAAGAATGAAACC
TTGGCATTACCTGCCGAATCTAAAACACCAGAGGTTGAAAAAATCTCAGCACGACCCACAACAGTGACTCCTGAAACAGTTCCAAGAAGCACTAAACCCACTACG
TCTAGTGCATTAGATGTTTCAGAAACAACACTGGCTTCAAGTGAAAAGCCATGGATTGTGCCTACAGCTAAAATATCTGAAGATTCCAAAGTTCTGCAGCCTCAA
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>ABI3BP|25890|protein
MRGGKCNMLSSLGCLLLCGSITLALGNAQKLPKGKRPNLKVHINTTSDSILLKFLRPSPNVKLEGLLLGYGSNVSPNQYFPLPAEGKFTEAIVDAEPKYLIVVRP
APPPSQKKSCSGKTRSRKPLQLVVGTLTPSSVFLSWGFLINPHHDWTLPSHCPNDRFYTIRYREKDKEKKWIFQICPATETIVENLKPNTVYEFGVKDNVEGGIW
SKIFNHKTVVGSKKVNGKIQSTYDQDHTVPAYVPRKLIPITIIKQVIQNVTHKDSAKSPEKAPLGGVILVHLIIPGLNETTVKLPASLMFEISDALKTQLAKNET
LALPAESKTPEVEKISARPTTVTPETVPRSTKPTTSSALDVSETTLASSEKPWIVPTAKISEDSKVLQPQTATYDVFSSPTTSDEPEISDSYTATSDRILDSIPP
KTSRTLEQPRATLAPSETPFVPQKLEIFTSPEMQPTTPAPQQTTSIPSTPKRRPRPKPPRTKPERTTSAGTITPKISKSPEPTWTTPAPGKTQFISLKPKIPLSP
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MRGGKCNMLSSLGCLLLCGSITLALGNAQKLPKGKRPNLKVHINTTSDSILLKFLRPSPNVKLEGLLLGYGSNVSPNQYFPLPAEGKFTEAIVDAEPKYLIVVRP
APPPSQKKSCSGKTRSRKPLQLVVGTLTPSSVFLSWGFLINPHHDWTLPSHCPNDRFYTIRYREKDKEKKWIFQICPATETIVENLKPNTVYEFGVKDNVEGGIW
SKIFNHKTVVGSKKVNGKIQSTYDQDHTVPAYVPRKLIPITIIKQVIQNVTHKDSAKSPEKAPLGGVILVHLIIPGLNETTVKLPASLMFEISDALKTQLAKNET
LALPAESKTPEVEKISARPTTVTPETVPRSTKPTTSSALDVSETTLASSEKPWIVPTAKISEDSKVLQPQTATYDVFSSPTTSDEPEISDSYTATSDRILDSIPP
KTSRTLEQPRATLAPSETPFVPQKLEIFTSPEMQPTTPAPQQTTSIPSTPKRRPRPKPPRTKPERTTSAGTITPKISKSPEPTWTTPAPGKTQFISLKPKIPLSP
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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 | 0 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (1) | 0 (0) | 10 (4) |




Family Based Association Studies: 1
Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
CAUCASIAN | |||||||||||
Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | ![]() | ![]() | 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. |


Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Christian, 2008 | USA | aCGH | ![]() | ![]() | ASD | 397 | 35 | 362 | - | 397 | 372 | 769 |








Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Sanders SJ, 2012 | - | 238 | 172 | De novo mutations revealed by whole-exome sequencing are strongly associated with autism. |




Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Cukier HN, 2014 | - | Illumina HiSeq 2000 | ![]() | ![]() | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |


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