AutismKB 2.0

Annotation Detail for FAM129B


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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 LinksEntrez ID:64855; OMIM: NA; Uniprot ID:NIBL1_HUMAN; ENSEMBL ID: ENSG00000136830; HGNC ID: 25282
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
469Phosphotyrosine.
588Phosphoserine.
590Phosphoserine.
593Phosphothreonine.
611Phosphoserine.
625Phosphoserine.
628Phosphoserine.
633Phosphoserine.
652Phosphoserine.
668Phosphoserine.
678Phosphoserine.
679Phosphoserine.
683Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001035534
  • Location:chr9 129307439-129381088
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 129388638 129388903 265 7682
CTCF CD4GSE12889 129392062 129392293 231 11089
CTCF CD4SISSRdata 129388638 129388903 265 7682
CTCF CD4SISSRdata 129392062 129392293 231 11089
CTCF HelaGSE12889 129388673 129388934 261 7715
P300 T30-glioblastomaGSE21026 129380860 129382001 1141 342
hScc1 BcellGSE12603 129388421 129388878 457 7561
hScc1 BcellGSE12603 129392120 129392397 277 11170
hScc1 CdLSGSE12603 129388125 129388898 773 7423
hScc1 CdLSGSE12603 129392120 129392397 277 11170
hScc1 G2GSE9613 129388017 129388898 881 7369
hScc1 G2GSE9613 129392120 129392397 277 11170
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 129376369 129377302 933 0
FoxA1 MCF7MACSdata 129376578 129377114 536 0
H3K4me2 HCT116GSE10453 129379421 129379778 357 0
PolII HeLaGSE12783 129374443 129377409 2966 0
RARA MCF7GSE15244 129376405 129377160 755 0
Rb QuiescentGSE19898 129371334 129371828 494 0
Rb SenescentGSE19898 129371441 129371708 267 0
TFAP2C MCF7GSE21234 129371512 129372307 795 0
TFAP2C MCF7GSE21234 129376108 129377320 1212 0
hScc1 BcellGSE12603 129371330 129371605 275 0
p130 QuiescentGSE19898 129371377 129371709 332 0
p130 SenescentGSE19898 129371392 129371920 528 0
p130 shRbSenescentGSE19898 129372076 129372392 316 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
No data
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
27055 EST chr9 127415294 127415461 167 mRNA C9orf88 chr9 127347176 127420822 Non-exonic Bidirectional (NOB) pairs

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018