AutismKB 2.0

Annotation Detail for RHBDL3


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Basic Information Top
Gene Symbol:RHBDL3 ( FLJ45582,MGC119300,MGC119301,RHBDL4,VRHO )
Gene Full Name: rhomboid, veinlet-like 3 (Drosophila)
Band: 17q11.2
Quick LinksEntrez ID:162494; OMIM: NA; Uniprot ID:RHBL3_HUMAN; ENSEMBL ID: ENSG00000141314; HGNC ID: 16502
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
6Phosphoserine(ATM)HMM predict
53Phosphotyrosine(Jak)HMM predict
53Phosphotyrosine(INSR)HMM predict
56Phosphothreonine(PKC)HMM predict
68Phosphoserine(CK1)HMM predict
106PhosphoserineHMM predict
119Phosphoserine(PKG)HMM predict
132Phosphoserine(ATM)HMM predict
143Phosphothreonine(PKC)HMM predict
196Phosphotyrosine(Jak)HMM predict
266Phosphoserine(IKK)HMM predict
277O-linkedHMM predict
295N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_138328
  • Location:chr17 27617307-27675792
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 27604183 27604551 368 12941
CTCF CD4SISSRdata 27604183 27604551 368 12941
CTCF HelaGSE12889 27604212 27604441 229 12981
CTCF G2GSE9613 27604122 27604509 387 12992
CTCF G2GSE9613 27616683 27616818 135 557
ER E2-MCF7GSE14664 27598006 27598048 42 19281
ER E2-MCF7GSE14664 27607758 27607816 58 9521
H3K27me3 colorectalcancer 27610586 27610843 257 6593
H3K27me3 colorectalcancer 27612140 27614501 2361 3987
H3K27me3 colorectalcancer 27614841 27616163 1322 1806
Myc K562GSE19551 27604121 27604468 347 13013
Nanog hESGSE18292 27609548 27609885 337 7591
Oct4 hESGSE17917 27604252 27604643 391 12860
hScc1 BcellGSE12603 27604122 27604509 387 12992
hScc1 BcellGSE12603 27616683 27616818 135 557
hScc1 CdLSGSE12603 27604122 27604509 387 12992
hScc1 G2GSE9613 27604122 27604509 387 12992
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 27670575 27670969 394 0
CTCF CD4SISSRdata 27670575 27670969 394 0
CTCF G2GSE9613 27623867 27624045 178 0
CTCF G2GSE9613 27632319 27632632 313 0
CTCF G2GSE9613 27670576 27671091 515 0
Fos K562GSE19551 27626163 27626633 470 0
FoxA1 MCF7MACSdata 27668511 27668746 235 0
NRSF JurkatGSE13047 27628217 27628978 761 0
NRSF JurkatSISSRdata 27628298 27628832 534 0
NRSF mAbJurkat 27628708 27628921 213 0
NRSF mAbJurkat 27629445 27629704 259 0
NRSF-mono JurkatQuESTdata 27628222 27628831 609 0
NRSF-poly JurkatQuESTdata 27628149 27628842 693 0
Nanog hESGSE18292 27640502 27641028 526 0
Nanog hESGSE18292 27654522 27654815 293 0
Nanog hESGSE18292 27666440 27666656 216 0
Oct1 H2O2-HelaGSE14283 27672241 27672268 27 0
Oct1 HelaGSE14283 27629315 27629380 65 0
Oct4 hESGSE17917 27654442 27654711 269 0
Oct4 hESGSE21916 27654077 27654926 849 0
P300 T30-glioblastomaGSE21026 27625911 27626833 922 0
RARA MCF7GSE15244 27650060 27651102 1042 0
RARA MCF7GSE15244 27668358 27669033 675 0
Sox2 hESGSE18292 27640340 27640894 554 0
Sox2 hESGSE18292 27654395 27654760 365 0
TFAP2C MCF7GSE21234 27650007 27650540 533 0
hScc1 BcellGSE12603 27617309 27617956 647 0
hScc1 BcellGSE12603 27670576 27671091 515 0
hScc1 CdLSGSE12603 27670576 27671091 515 0
Validated miRNA targets Top
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
10919 mRNA RHBDL4 chr17 27618935 27675788 92 EST chr17 27675696 27686494Sense/Antisense (SA) 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


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