AutismKB 2.0

Annotation Detail for RHBDF2


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Basic Information Top
Gene Symbol:RHBDF2 ( FLJ22341,RHBDL5,RHBDL6 )
Gene Full Name: rhomboid 5 homolog 2 (Drosophila)
Band: 17q25.3
Quick LinksEntrez ID:79651; OMIM: NA; Uniprot ID:RHDF2_HUMAN; ENSEMBL ID: ENSG00000129667; HGNC ID: 20788
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
90Phosphoserine.
113Phosphoserine (By similarity).
117Phosphoserine (By similarity).
323Phosphoserine (By similarity).
325Phosphoserine.
328Phosphoserine.
387Phosphoserine (By similarity).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001005498
  • Location:chr17 71978570-72009102
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 72014102 72014433 331 5165
CTCF CD4SISSRdata 72014102 72014433 331 5165
CTCF JurkatGSE12889 72014043 72014486 443 5162
CTCF G2GSE9613 72013880 72014526 646 5101
Myc K562GSE19551 72013996 72014594 598 5193
Rb GrowingGSE19898 72014110 72014385 275 5145
Rb QuiescentGSE19898 72014091 72014363 272 5125
hScc1 BcellGSE12603 72013880 72014561 681 5118
hScc1 CdLSGSE12603 72013880 72014415 535 5045
hScc1 G2GSE9613 72013880 72014342 462 5009
p130 SenescentGSE19898 72014176 72014390 214 5181
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 71981364 71981584 220 0
CTCF CD4SISSRdata 71981364 71981584 220 0
CTCF G2GSE9613 71979000 71980008 1008 0
CTCF G2GSE9613 71985296 71985934 638 0
CTCF G2GSE9613 71989047 71989324 277 0
CTCF G2GSE9613 71995242 71995458 216 0
CTCF G2GSE9613 72001741 72002064 323 0
CTCF G2GSE9613 72004750 72005188 438 0
CTCF G2GSE9613 72008669 72009114 445 0
ER Fulvestrant-MCF7GSE14664 72001368 72001412 44 0
Fos K562GSE19551 71992334 71992771 437 0
H3ac HepG2E 72006199 72008548 2349 0
NFkBII GM12878GSE19485 72005400 72007250 1850 0
Oct1 HelaGSE14283 72001365 72001414 49 0
Oct1 HelaGSE14283 72002125 72002151 26 0
PHF8 HeLaGSE20725 72008570 72009560 990 0
TFAP2C MCF7GSE21234 72005703 72006332 629 0
VDR GM10855-stimGSE22484 71987943 71992087 4144 0
VDR GM10861-stimGSE22484 71987958 71991321 3363 0
VDR GM10861-stimGSE22484 72005996 72009791 3795 0
hScc1 BcellGSE12603 71986885 71987208 323 0
hScc1 BcellGSE12603 71999500 72000352 852 0
hScc1 BcellGSE12603 72004750 72005261 511 0
hScc1 BcellGSE12603 72006742 72007437 695 0
hScc1 BcellGSE12603 72008596 72009013 417 0
hScc1 CdLSGSE12603 71989697 71989863 166 0
p130 QuiescentGSE19898 72001126 72001306 180 0
p130 QuiescentGSE19898 72005683 72006426 743 0
p130 SenescentGSE19898 72000994 72001341 347 0
p130 SenescentGSE19898 72005438 72006143 705 0
p130 SenescentGSE19898 72006146 72006458 312 0
p130 shRbQuiescentGSE19898 72000716 72001338 622 0
p130 shRbQuiescentGSE19898 72005586 72006615 1029 0
p130 shRbSenescentGSE19898 72005986 72006206 220 0
p63 keratinocytesGSE17611 71991984 71992819 835 0
Validated miRNA targets Top
Cis-Nats regulation Top

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