AutismKB 2.0

Annotation Detail for PDE6B


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Basic Information Top
Gene Symbol:PDE6B ( CSNB3,CSNBAD2,PDEB,RP40,rd1 )
Gene Full Name: phosphodiesterase 6B, cGMP-specific, rod, beta
Band: 4p16.3
Quick LinksEntrez ID:5158; OMIM: 180072; Uniprot ID:PDE6B_HUMAN; ENSEMBL ID: ENSG00000133256; HGNC ID: 8786
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
10Phosphoserine(IKK)HMM predict
145Phosphothreonine(PKC)HMM predict
202Phosphothreonine(CK2)HMM predict
297Phosphoserine(ATM)HMM predict
300Phosphotyrosine(SRC)HMM predict
300Phosphotyrosine(Syk)HMM predict
300Phosphotyrosine(Abl)HMM predict
300Phosphotyrosine(Jak)HMM predict
301Phosphoserine(IKK)HMM predict
305Phosphothreonine(MAPK)HMM predict
305Phosphothreonine(CDC2)HMM predict
305Phosphothreonine(CDK)HMM predict
435Phosphotyrosine(INSR)HMM predict
435Phosphotyrosine(SRC)HMM predict
582Phosphotyrosine(Syk)HMM predict
645Phosphotyrosine(INSR)HMM predict
689Phosphotyrosine(Syk)HMM predict
852S-farnesylHMM predict
852CysteineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000283
  • Location:chr4 609372-654569
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 595164 595424 260 14079
CTCF G2GSE9613 595747 597194 1447 12902
CTCF G2GSE9613 604175 605893 1718 4339
CTCF G2GSE9613 606314 606822 508 2805
CTCF G2GSE9613 607185 607593 408 1984
CTCF G2GSE9613 607872 609130 1258 872
ER MCF7GSE19013 601365 601890 525 7745
TFAP2C MCF7GSE21234 594186 595021 835 14769
hScc1 BcellGSE12603 605566 605737 171 3721
hScc1 BcellGSE12603 607313 608104 791 1664
hScc1 BcellGSE12603 608555 609056 501 567
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 654602 654790 188 127
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 609415 609723 308 0
CTCF G2GSE9613 610228 610575 347 0
CTCF G2GSE9613 613090 614955 1865 0
CTCF G2GSE9613 616285 618625 2340 0
CTCF G2GSE9613 619392 619567 175 0
CTCF G2GSE9613 619839 620162 323 0
CTCF G2GSE9613 620458 620722 264 0
CTCF G2GSE9613 632728 633444 716 0
CTCF G2GSE9613 633943 635191 1248 0
CTCF G2GSE9613 635795 636275 480 0
CTCF G2GSE9613 636825 638448 1623 0
CTCF G2GSE9613 638758 639890 1132 0
CTCF G2GSE9613 640414 642210 1796 0
CTCF G2GSE9613 643975 644308 333 0
CTCF G2GSE9613 645614 646113 499 0
CTCF G2GSE9613 647060 647241 181 0
CTCF G2GSE9613 647639 647823 184 0
CTCF G2GSE9613 648606 650970 2364 0
CTCF G2GSE9613 651440 651786 346 0
CTCF G2GSE9613 653598 653786 188 0
ETS1 JurkatGSE17954 647363 648432 1069 0
RARA MCF7GSE15244 641139 642397 1258 0
TFAP2C MCF7GSE21234 616727 617289 562 0
USF1 HepG2E 631901 632287 386 0
hScc1 BcellGSE12603 609386 609723 337 0
hScc1 BcellGSE12603 611547 611832 285 0
hScc1 BcellGSE12603 613413 614073 660 0
hScc1 BcellGSE12603 617943 618350 407 0
hScc1 BcellGSE12603 634246 634825 579 0
hScc1 BcellGSE12603 636963 637638 675 0
hScc1 BcellGSE12603 639435 639852 417 0
hScc1 BcellGSE12603 640414 640558 144 0
hScc1 G2GSE9613 618246 618625 379 0
hScc1 G2GSE9613 632728 633444 716 0
hScc1 G2GSE9613 634019 635415 1396 0
hScc1 G2GSE9613 641175 642474 1299 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
19290 mRNA PDE6B chr4 609394 654542 195 HTC PDE6B chr4 637011 639434Sense/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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