Evidence Details for FAM129B
Basic Information Top
| Gene Symbol: | FAM129B ( C9orf88,DKFZP434H0820,FLJ13518,FLJ22151,FLJ22298,MEG-3,MINERVA,OC58,bA356B19.6 ) |
|---|---|
| Gene Full Name: | family with sequence similarity 129, member B |
| Band: | 9q34.11 |
| Quick Links | Entrez ID:64855; OMIM: NA; Uniprot ID:NIBL1_HUMAN; ENSEMBL ID: ENSG00000136830; HGNC ID: 25282 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>FAM129B|64855|nucleotide
ATGGGGTGGATGGGAGAAAAAACCGGGAAGATCCTGACGGAGTTCCTCCAGTTCTATGAAGACCAGTATGGCGTGGCTCTCTTCAACAGCATGCGCCATGAGATT
GAGGGCACGGGGCTGCCGCAGGCCCAGCTGCTCTGGCGCAAGGTGCCACTGGACGAGCGCATCGTCTTCTCGGGGAACCTCTTCCAGCACCAGGAGGACAGCAAG
AAGTGGAGAAACCGCTTCAGCCTCGTGCCCCACAACTACGGGCTGGTGCTCTACGAAAACAAAGCGGCCTATGAGCGGCAGGTCCCACCACGAGCCGTCATCAAC
AGTGCAGGCTACAAAATCCTCACGTCCGTGGACCAATACCTGGAGCTCATTGGCAACTCCTTACCAGGGACCACGGCAAAGTCGGGCAGTGCCCCCATCCTCAAG
TGCCCCACACAGTTCCCGCTCATCCTCTGGCATCCTTATGCGCGTCACTACTACTTCTGCATGATGACAGAAGCCGAGCAGGACAAGTGGCAGGCTGTGCTGCAG
GACTGCATCCGGCACTGCAACAATGGAATCCCTGAGGACTCCAAGGTAGAGGGCCCTGCGTTCACAGATGCCATCCGCATGTACCGACAGTCCAAGGAGCTGTAC
GGCACCTGGGAGATGCTGTGTGGGAACGAGGTGCAGATCCTGAGCAACCTGGTGATGGAGGAGCTGGGCCCTGAGCTGAAGGCAGAGCTCGGCCCGCGGCTGAAG
GGGAAACCGCAGGAGCGGCAGCGGCAGTGGATCCAGATCTCGGACGCCGTGTACCACATGGTGTACGAGCAGGCCAAGGCGCGCTTCGAGGAGGTGCTGTCCAAG
GTGCAGCAGGTGCAGCCGGCCATGCAGGCCGTCATCCGAACTGACATGGACCAAATTATCACCTCCAAGGAGCACCTTGCCAGCAAGATCCGAGCCTTCATCCTC
CCCAAGGCAGAGGTGTGCGTGCGGAACCATGTCCAGCCCTACATCCCATCCATCCTGGAGGCCCTGATGGTCCCCACCAGCCAGGGCTTCACTGAGGTGCGAGAT
GTCTTCTTCAAGGAGGTCACGGACATGAACCTGAACGTCATCAACGAGGGCGGCATTGACAAGCTGGGCGAGTACATGGAGAAGCTGTCCCGGCTGGCGTACCAC
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ATGGGGTGGATGGGAGAAAAAACCGGGAAGATCCTGACGGAGTTCCTCCAGTTCTATGAAGACCAGTATGGCGTGGCTCTCTTCAACAGCATGCGCCATGAGATT
GAGGGCACGGGGCTGCCGCAGGCCCAGCTGCTCTGGCGCAAGGTGCCACTGGACGAGCGCATCGTCTTCTCGGGGAACCTCTTCCAGCACCAGGAGGACAGCAAG
AAGTGGAGAAACCGCTTCAGCCTCGTGCCCCACAACTACGGGCTGGTGCTCTACGAAAACAAAGCGGCCTATGAGCGGCAGGTCCCACCACGAGCCGTCATCAAC
AGTGCAGGCTACAAAATCCTCACGTCCGTGGACCAATACCTGGAGCTCATTGGCAACTCCTTACCAGGGACCACGGCAAAGTCGGGCAGTGCCCCCATCCTCAAG
TGCCCCACACAGTTCCCGCTCATCCTCTGGCATCCTTATGCGCGTCACTACTACTTCTGCATGATGACAGAAGCCGAGCAGGACAAGTGGCAGGCTGTGCTGCAG
GACTGCATCCGGCACTGCAACAATGGAATCCCTGAGGACTCCAAGGTAGAGGGCCCTGCGTTCACAGATGCCATCCGCATGTACCGACAGTCCAAGGAGCTGTAC
GGCACCTGGGAGATGCTGTGTGGGAACGAGGTGCAGATCCTGAGCAACCTGGTGATGGAGGAGCTGGGCCCTGAGCTGAAGGCAGAGCTCGGCCCGCGGCTGAAG
GGGAAACCGCAGGAGCGGCAGCGGCAGTGGATCCAGATCTCGGACGCCGTGTACCACATGGTGTACGAGCAGGCCAAGGCGCGCTTCGAGGAGGTGCTGTCCAAG
GTGCAGCAGGTGCAGCCGGCCATGCAGGCCGTCATCCGAACTGACATGGACCAAATTATCACCTCCAAGGAGCACCTTGCCAGCAAGATCCGAGCCTTCATCCTC
CCCAAGGCAGAGGTGTGCGTGCGGAACCATGTCCAGCCCTACATCCCATCCATCCTGGAGGCCCTGATGGTCCCCACCAGCCAGGGCTTCACTGAGGTGCGAGAT
GTCTTCTTCAAGGAGGTCACGGACATGAACCTGAACGTCATCAACGAGGGCGGCATTGACAAGCTGGGCGAGTACATGGAGAAGCTGTCCCGGCTGGCGTACCAC
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>FAM129B|64855|protein
MGWMGEKTGKILTEFLQFYEDQYGVALFNSMRHEIEGTGLPQAQLLWRKVPLDERIVFSGNLFQHQEDSKKWRNRFSLVPHNYGLVLYENKAAYERQVPPRAVIN
SAGYKILTSVDQYLELIGNSLPGTTAKSGSAPILKCPTQFPLILWHPYARHYYFCMMTEAEQDKWQAVLQDCIRHCNNGIPEDSKVEGPAFTDAIRMYRQSKELY
GTWEMLCGNEVQILSNLVMEELGPELKAELGPRLKGKPQERQRQWIQISDAVYHMVYEQAKARFEEVLSKVQQVQPAMQAVIRTDMDQIITSKEHLASKIRAFIL
PKAEVCVRNHVQPYIPSILEALMVPTSQGFTEVRDVFFKEVTDMNLNVINEGGIDKLGEYMEKLSRLAYHPLKMQSCYEKMESLRLDGLQQRFDVSSTSVFKQRA
QIHMREQMDNAVYTFETLLHQELGKGPTKEELCKSIQRVLERVLKKYDYDSSSVRKRFFREALLQISIPFLLKKLAPTCKSELPRFQELIFEDFARFILVENTYE
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MGWMGEKTGKILTEFLQFYEDQYGVALFNSMRHEIEGTGLPQAQLLWRKVPLDERIVFSGNLFQHQEDSKKWRNRFSLVPHNYGLVLYENKAAYERQVPPRAVIN
SAGYKILTSVDQYLELIGNSLPGTTAKSGSAPILKCPTQFPLILWHPYARHYYFCMMTEAEQDKWQAVLQDCIRHCNNGIPEDSKVEGPAFTDAIRMYRQSKELY
GTWEMLCGNEVQILSNLVMEELGPELKAELGPRLKGKPQERQRQWIQISDAVYHMVYEQAKARFEEVLSKVQQVQPAMQAVIRTDMDQIITSKEHLASKIRAFIL
PKAEVCVRNHVQPYIPSILEALMVPTSQGFTEVRDVFFKEVTDMNLNVINEGGIDKLGEYMEKLSRLAYHPLKMQSCYEKMESLRLDGLQQRFDVSSTSVFKQRA
QIHMREQMDNAVYTFETLLHQELGKGPTKEELCKSIQRVLERVLKKYDYDSSSVRKRFFREALLQISIPFLLKKLAPTCKSELPRFQELIFEDFARFILVENTYE
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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 (1) | 0 (1) | 0 (0) | 0 (0) | 2 (2) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 12 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top 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. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Gregory, 2009 | USA | aCGH | | | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge 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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
1.36394 | Up | - | |
| ||||||||||||
| Voineagu, 2011_2 | Unknown | frontal, BA44/45 | 10 (0.00%) | | | - | autism | 6 (0.00%) |
1.21564 | Up | 0.135099 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2012 | - | 343 | 50 | De novo gene disruptions in children on the autistic spectrum. |
NGS Mosaic SNV Studies TopNGS 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.