Evidence Details for ANXA11
Basic Information Top
| Gene Symbol: | ANXA11 ( ANX11,CAP50 ) |
|---|---|
| Gene Full Name: | annexin A11 |
| Band: | 10q22.3 |
| Quick Links | Entrez ID:311; OMIM: 602572; Uniprot ID:ANX11_HUMAN; ENSEMBL ID: ENSG00000122359; HGNC ID: 535 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ANXA11|311|nucleotide
ATGAGCTACCCTGGCTATCCCCCGCCCCCAGGTGGCTACCCACCAGCTGCACCAGGTGGTGGTCCCTGGGGAGGTGCTGCCTACCCTCCTCCGCCCAGCATGCCC
CCCATCGGGCTGGATAACGTGGCCACCTATGCGGGGCAGTTCAACCAGGACTATCTCTCGGGAATGGCGGCCAACATGTCTGGGACATTTGGAGGAGCCAACATG
CCCAACCTGTACCCTGGGGCCCCTGGGGCTGGCTACCCACCAGTGCCCCCTGGCGGCTTTGGGCAGCCCCCCTCTGCCCAGCAGCCTGTTCCTCCCTATGGGATG
TATCCACCCCCAGGAGGAAACCCACCCTCCAGGATGCCCTCATATCCGCCATACCCAGGGGCCCCTGTGCCGGGCCAGCCCATGCCACCCCCCGGACAGCAGCCC
CCAGGGGCCTACCCTGGGCAGCCACCAGTGACCTACCCTGGTCAGCCTCCAGTGCCACTCCCTGGGCAGCAGCAGCCAGTGCCGAGCTACCCAGGATACCCGGGG
TCTGGGACTGTCACCCCCGCTGTGCCCCCAACCCAGTTTGGAAGCCGAGGCACCATCACTGATGCTCCCGGCTTTGACCCCCTGCGAGATGCCGAGGTCCTGCGG
AAGGCCATGAAAGGCTTCGGGACGGATGAGCAGGCCATCATTGACTGCCTGGGGAGTCGCTCCAACAAGCAGCGGCAGCAGATCCTACTTTCCTTCAAGACGGCT
TACGGCAAGGATTTGATCAAAGATCTGAAATCTGAACTGTCAGGAAACTTTGAGAAGACAATCTTGGCTCTGATGAAGACCCCAGTCCTCTTTGACATTTATGAG
ATAAAGGAAGCCATCAAGGGGGTTGGCACTGATGAAGCCTGCCTGATTGAGATCCTCGCTTCCCGCAGCAATGAGCACATCCGAGAATTAAACAGAGCCTACAAA
GCAGAATTCAAAAAGACCCTGGAAGAGGCCATTCGAAGCGACACATCAGGGCACTTCCAGCGGCTCCTCATCTCTCTCTCTCAGGGAAACCGTGATGAAAGCACA
AACGTGGACATGTCACTCGCCCAGAGAGATGCCCAGGAGCTGTATGCGGCCGGGGAGAACCGCCTGGGAACAGACGAGTCCAAGTTCAATGCGGTTCTGTGCTCC
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ATGAGCTACCCTGGCTATCCCCCGCCCCCAGGTGGCTACCCACCAGCTGCACCAGGTGGTGGTCCCTGGGGAGGTGCTGCCTACCCTCCTCCGCCCAGCATGCCC
CCCATCGGGCTGGATAACGTGGCCACCTATGCGGGGCAGTTCAACCAGGACTATCTCTCGGGAATGGCGGCCAACATGTCTGGGACATTTGGAGGAGCCAACATG
CCCAACCTGTACCCTGGGGCCCCTGGGGCTGGCTACCCACCAGTGCCCCCTGGCGGCTTTGGGCAGCCCCCCTCTGCCCAGCAGCCTGTTCCTCCCTATGGGATG
TATCCACCCCCAGGAGGAAACCCACCCTCCAGGATGCCCTCATATCCGCCATACCCAGGGGCCCCTGTGCCGGGCCAGCCCATGCCACCCCCCGGACAGCAGCCC
CCAGGGGCCTACCCTGGGCAGCCACCAGTGACCTACCCTGGTCAGCCTCCAGTGCCACTCCCTGGGCAGCAGCAGCCAGTGCCGAGCTACCCAGGATACCCGGGG
TCTGGGACTGTCACCCCCGCTGTGCCCCCAACCCAGTTTGGAAGCCGAGGCACCATCACTGATGCTCCCGGCTTTGACCCCCTGCGAGATGCCGAGGTCCTGCGG
AAGGCCATGAAAGGCTTCGGGACGGATGAGCAGGCCATCATTGACTGCCTGGGGAGTCGCTCCAACAAGCAGCGGCAGCAGATCCTACTTTCCTTCAAGACGGCT
TACGGCAAGGATTTGATCAAAGATCTGAAATCTGAACTGTCAGGAAACTTTGAGAAGACAATCTTGGCTCTGATGAAGACCCCAGTCCTCTTTGACATTTATGAG
ATAAAGGAAGCCATCAAGGGGGTTGGCACTGATGAAGCCTGCCTGATTGAGATCCTCGCTTCCCGCAGCAATGAGCACATCCGAGAATTAAACAGAGCCTACAAA
GCAGAATTCAAAAAGACCCTGGAAGAGGCCATTCGAAGCGACACATCAGGGCACTTCCAGCGGCTCCTCATCTCTCTCTCTCAGGGAAACCGTGATGAAAGCACA
AACGTGGACATGTCACTCGCCCAGAGAGATGCCCAGGAGCTGTATGCGGCCGGGGAGAACCGCCTGGGAACAGACGAGTCCAAGTTCAATGCGGTTCTGTGCTCC
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>ANXA11|311|protein
MSYPGYPPPPGGYPPAAPGGGPWGGAAYPPPPSMPPIGLDNVATYAGQFNQDYLSGMAANMSGTFGGANMPNLYPGAPGAGYPPVPPGGFGQPPSAQQPVPPYGM
YPPPGGNPPSRMPSYPPYPGAPVPGQPMPPPGQQPPGAYPGQPPVTYPGQPPVPLPGQQQPVPSYPGYPGSGTVTPAVPPTQFGSRGTITDAPGFDPLRDAEVLR
KAMKGFGTDEQAIIDCLGSRSNKQRQQILLSFKTAYGKDLIKDLKSELSGNFEKTILALMKTPVLFDIYEIKEAIKGVGTDEACLIEILASRSNEHIRELNRAYK
AEFKKTLEEAIRSDTSGHFQRLLISLSQGNRDESTNVDMSLAQRDAQELYAAGENRLGTDESKFNAVLCSRSRAHLVAVFNEYQRMTGRDIEKSICREMSGDLEE
GMLAVVKCLKNTPAFFAERLNKAMRGAGTKDRTLIRIMVSRSETDLLDIRSEYKRMYGKSLYHDISGDTSGDYRKILLKICGGND
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MSYPGYPPPPGGYPPAAPGGGPWGGAAYPPPPSMPPIGLDNVATYAGQFNQDYLSGMAANMSGTFGGANMPNLYPGAPGAGYPPVPPGGFGQPPSAQQPVPPYGM
YPPPGGNPPSRMPSYPPYPGAPVPGQPMPPPGQQPPGAYPGQPPVTYPGQPPVPLPGQQQPVPSYPGYPGSGTVTPAVPPTQFGSRGTITDAPGFDPLRDAEVLR
KAMKGFGTDEQAIIDCLGSRSNKQRQQILLSFKTAYGKDLIKDLKSELSGNFEKTILALMKTPVLFDIYEIKEAIKGVGTDEACLIEILASRSNEHIRELNRAYK
AEFKKTLEEAIRSDTSGHFQRLLISLSQGNRDESTNVDMSLAQRDAQELYAAGENRLGTDESKFNAVLCSRSRAHLVAVFNEYQRMTGRDIEKSICREMSGDLEE
GMLAVVKCLKNTPAFFAERLNKAMRGAGTKDRTLIRIMVSRSETDLLDIRSEYKRMYGKSLYHDISGDTSGDYRKILLKICGGND
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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) | 1 (1) | 0 (0) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (5) |
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 | ||||||
| Balciuniene, 2007 | - | aCGH, SNP microarray | ![]() | ![]() | autism | 1 | - | 1 | - | - | - | - |
| Pinto, 2010 | - | SNP microarray, qPCR | ![]() | ![]() | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top
| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Monaco, 2001 | - | microsatellite-based genomic screen | ![]() | ![]() | PDD | 152 | - | 152 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 2
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Nishimura, 2007_1 | America | lymphoblastoid cell lines | 8 (-) | ![]() | ![]() | autism with FMR1-FM | autism | 15 (-) |
0.87 | Down | 0.0000096 | |
| ||||||||||||
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | ![]() | ![]() | - | autism | 16 (6.25%) |
1.2049 | Up | 3.24088 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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