Evidence Details for HDLBP
Basic Information Top
Gene Symbol: | HDLBP ( FLJ16432,HBP,PRO2900,VGL ) |
---|---|
Gene Full Name: | high density lipoprotein binding protein |
Band: | 2q37.3 |
Quick Links | Entrez ID:3069; OMIM: 142695; Uniprot ID:VIGLN_HUMAN; ENSEMBL ID: ENSG00000115677; HGNC ID: 4857 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>HDLBP|3069|nucleotide
ATGAGTTCCGTTGCAGTTTTGACCCAAGAGAGTTTTGCTGAACACCGAAGTGGGCTGGTTCCGCAACAAATCAAAGTTGCCACTCTAAATTCAGAAGAGGAGAGC
GACCCTCCAACCTACAAGGATGCCTTCCCTCCACTTCCTGAGAAAGCTGCTTGCCTGGAAAGTGCCCAGGAACCCGCTGGAGCCTGGGGGAACAAGATCCGACCC
ATCAAGGCTTCTGTCATCACTCAGGTGTTCCATGTACCCCTGGAGGAGAGAAAATACAAGGATATGAACCAGTTTGGAGAAGGTGAACAAGCAAAAATCTGCCTT
GAGATCATGCAGAGAACTGGTGCTCACTTGGAGCTGTCTTTGGCCAAAGACCAAGGCCTCTCCATCATGGTGTCAGGAAAGCTGGATGCTGTCATGAAAGCTCGG
AAGGACATTGTTGCTAGACTGCAGACTCAGGCCTCAGCAACTGTTGCCATTCCCAAAGAACACCATCGCTTTGTTATTGGCAAAAATGGAGAGAAACTGCAAGAC
TTGGAGCTAAAAACTGCAACCAAAATCCAGATCCCACGCCCAGATGACCCCAGCAATCAGATCAAGATCACTGGCACCAAAGAGGGCATCGAGAAAGCTCGCCAT
GAAGTCTTACTCATCTCTGCCGAGCAGGACAAACGTGCTGTGGAGAGGCTAGAAGTAGAAAAGGCATTCCACCCCTTCATCGCTGGGCCGTATAATAGACTGGTT
GGCGAGATCATGCAGGAGACAGGCACGCGCATCAACATCCCCCCACCCAGCGTGAACCGGACAGAGATTGTCTTCACTGGAGAGAAGGAACAGTTGGCTCAGGCT
GTGGCTCGCATCAAGAAGATTTATGAGGAGAAGAAAAAGAAGACTACAACCATTGCAGTGGAAGTGAAGAAATCCCAACACAAGTATGTCATTGGGCCCAAGGGC
AATTCATTGCAGGAGATCCTTGAGAGAACTGGAGTTTCCGTTGAGATCCCACCCTCAGACAGCATCTCTGAGACTGTAATACTTCGAGGCGAACCTGAAAAGTTA
GGTCAGGCGTTGACTGAAGTCTATGCCAAGGCCAATAGCTTCACCGTCTCCTCTGTCGCCGCCCCTTCCTGGCTTCACCGTTTCATCATTGGCAAGAAAGGGCAG
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ATGAGTTCCGTTGCAGTTTTGACCCAAGAGAGTTTTGCTGAACACCGAAGTGGGCTGGTTCCGCAACAAATCAAAGTTGCCACTCTAAATTCAGAAGAGGAGAGC
GACCCTCCAACCTACAAGGATGCCTTCCCTCCACTTCCTGAGAAAGCTGCTTGCCTGGAAAGTGCCCAGGAACCCGCTGGAGCCTGGGGGAACAAGATCCGACCC
ATCAAGGCTTCTGTCATCACTCAGGTGTTCCATGTACCCCTGGAGGAGAGAAAATACAAGGATATGAACCAGTTTGGAGAAGGTGAACAAGCAAAAATCTGCCTT
GAGATCATGCAGAGAACTGGTGCTCACTTGGAGCTGTCTTTGGCCAAAGACCAAGGCCTCTCCATCATGGTGTCAGGAAAGCTGGATGCTGTCATGAAAGCTCGG
AAGGACATTGTTGCTAGACTGCAGACTCAGGCCTCAGCAACTGTTGCCATTCCCAAAGAACACCATCGCTTTGTTATTGGCAAAAATGGAGAGAAACTGCAAGAC
TTGGAGCTAAAAACTGCAACCAAAATCCAGATCCCACGCCCAGATGACCCCAGCAATCAGATCAAGATCACTGGCACCAAAGAGGGCATCGAGAAAGCTCGCCAT
GAAGTCTTACTCATCTCTGCCGAGCAGGACAAACGTGCTGTGGAGAGGCTAGAAGTAGAAAAGGCATTCCACCCCTTCATCGCTGGGCCGTATAATAGACTGGTT
GGCGAGATCATGCAGGAGACAGGCACGCGCATCAACATCCCCCCACCCAGCGTGAACCGGACAGAGATTGTCTTCACTGGAGAGAAGGAACAGTTGGCTCAGGCT
GTGGCTCGCATCAAGAAGATTTATGAGGAGAAGAAAAAGAAGACTACAACCATTGCAGTGGAAGTGAAGAAATCCCAACACAAGTATGTCATTGGGCCCAAGGGC
AATTCATTGCAGGAGATCCTTGAGAGAACTGGAGTTTCCGTTGAGATCCCACCCTCAGACAGCATCTCTGAGACTGTAATACTTCGAGGCGAACCTGAAAAGTTA
GGTCAGGCGTTGACTGAAGTCTATGCCAAGGCCAATAGCTTCACCGTCTCCTCTGTCGCCGCCCCTTCCTGGCTTCACCGTTTCATCATTGGCAAGAAAGGGCAG
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>HDLBP|3069|protein
MSSVAVLTQESFAEHRSGLVPQQIKVATLNSEEESDPPTYKDAFPPLPEKAACLESAQEPAGAWGNKIRPIKASVITQVFHVPLEERKYKDMNQFGEGEQAKICL
EIMQRTGAHLELSLAKDQGLSIMVSGKLDAVMKARKDIVARLQTQASATVAIPKEHHRFVIGKNGEKLQDLELKTATKIQIPRPDDPSNQIKITGTKEGIEKARH
EVLLISAEQDKRAVERLEVEKAFHPFIAGPYNRLVGEIMQETGTRINIPPPSVNRTEIVFTGEKEQLAQAVARIKKIYEEKKKKTTTIAVEVKKSQHKYVIGPKG
NSLQEILERTGVSVEIPPSDSISETVILRGEPEKLGQALTEVYAKANSFTVSSVAAPSWLHRFIIGKKGQNLAKITQQMPKVHIEFTEGEDKITLEGPTEDVNVA
QEQIEGMVKDLINRMDYVEINIDHKFHRHLIGKSGANINRIKDQYKVSVRIPPDSEKSNLIRIEGDPQGVQQAKRELLELASRMENERTKDLIIEQRFHRTIIGQ
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MSSVAVLTQESFAEHRSGLVPQQIKVATLNSEEESDPPTYKDAFPPLPEKAACLESAQEPAGAWGNKIRPIKASVITQVFHVPLEERKYKDMNQFGEGEQAKICL
EIMQRTGAHLELSLAKDQGLSIMVSGKLDAVMKARKDIVARLQTQASATVAIPKEHHRFVIGKNGEKLQDLELKTATKIQIPRPDDPSNQIKITGTKEGIEKARH
EVLLISAEQDKRAVERLEVEKAFHPFIAGPYNRLVGEIMQETGTRINIPPPSVNRTEIVFTGEKEQLAQAVARIKKIYEEKKKKTTTIAVEVKKSQHKYVIGPKG
NSLQEILERTGVSVEIPPSDSISETVILRGEPEKLGQALTEVYAKANSFTVSSVAAPSWLHRFIIGKKGQNLAKITQQMPKVHIEFTEGEDKITLEGPTEDVNVA
QEQIEGMVKDLINRMDYVEINIDHKFHRHLIGKSGANINRIKDQYKVSVRIPPDSEKSNLIRIEGDPQGVQQAKRELLELASRMENERTKDLIIEQRFHRTIIGQ
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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 | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 10 (4) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Sebat, 2007 | USA | aCGH | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 | ||
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top
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 |
---|---|---|---|---|
O'Roak BJ, 2012 | 1703 | 209 | 242 | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. |
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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