AutismKB 2.0

Annotation Detail for BTBD2


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Basic Information Top
Gene Symbol:BTBD2 ( - )
Gene Full Name: BTB (POZ) domain containing 2
Band: 19p13.3
Quick LinksEntrez ID:55643; OMIM: 608531; Uniprot ID:BTBD2_HUMAN; ENSEMBL ID: ENSG00000133243; HGNC ID: 15504
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
25Phosphoserine(CDC2)HMM predict
25O-linkedHMM predict
29O-linkedHMM predict
35Phosphothreonine(MAPK)HMM predict
35O-linkedHMM predict
58PhosphothreonineHMM predict
58O-linkedHMM predict
58O-linkedHMM predict
102Phosphothreonine(PKC)HMM predict
129Phosphoserine(ATM)HMM predict
389Phosphothreonine(PKC)HMM predict
409Phosphotyrosine(INSR)HMM predict
436N-linkedHMM predict
464N-linkedHMM predict
487Phosphothreonine(PKA)HMM predict
492Phosphothreonine(PKC)HMM predict
497O-linkedHMM predict
509N-linkedHMM predict
509AsparagineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017797
  • Location:chr19 1936446-1966701
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 1970657 1970919 262 4087
CTCF CD4SISSRdata 1970657 1970919 262 4087
CTCF HelaGSE12889 1970654 1970913 259 4082
CTCF JurkatGSE12889 1970654 1970924 270 4088
CTCF G2GSE9613 1970752 1970894 142 4122
Fos K562GSE19551 1970536 1970960 424 4047
Myc K562GSE19551 1970595 1970943 348 4068
hScc1 BcellGSE12603 1967168 1967652 484 709
hScc1 BcellGSE12603 1970506 1970894 388 3999
hScc1 CdLSGSE12603 1970506 1970894 388 3999
hScc1 G2GSE9613 1970506 1970894 388 3999
p130 SenescentGSE19898 1967034 1967283 249 457
p130 SenescentGSE19898 1970462 1970896 434 3978
p130 shRbQuiescentGSE19898 1970518 1970863 345 3989
p130 shRbSenescentGSE19898 1970578 1970870 292 4023
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 1936919 1937219 300 0
hScc1 BcellGSE12603 1938501 1938769 268 0
hScc1 BcellGSE12603 1948522 1948734 212 0
hScc1 BcellGSE12603 1950040 1950355 315 0
hScc1 BcellGSE12603 1961288 1961609 321 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
12457 EST chr19 1940399 1941202 192 mRNA BTBD2 chr19 1936446 1966702Sense/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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