AutismKB 2.0

Annotation Detail for LRRC8B


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Basic Information Top
Gene Symbol:LRRC8B ( KIAA0231,MGC42220,TA-LRRP,TALRRP )
Gene Full Name: leucine rich repeat containing 8 family, member B
Band: 1p22.2
Quick LinksEntrez ID:23507; OMIM: 612888; Uniprot ID:LRC8B_HUMAN; ENSEMBL ID: ENSG00000197147; HGNC ID: 30692
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
355N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
355N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
15Phosphoserine(CK1)HMM predict
54S-palmitoylHMM predict
55S-palmitoylHMM predict
78N-linkedHMM predict
81Phosphoserine(IKK)HMM predict
82N-linkedHMM predict
85Phosphothreonine(MAPK)HMM predict
85Phosphothreonine(CDK)HMM predict
145Phosphothreonine(PKC)HMM predict
170Phosphoserine(PKG)HMM predict
201Phosphoserine(CK1)HMM predict
355N-linkedHMM predict
356Phosphotyrosine(EGFR)HMM predict
356Phosphotyrosine(INSR)HMM predict
356Phosphotyrosine(Syk)HMM predict
376Phosphotyrosine(Syk)HMM predict
656Phosphoserine(CK2)HMM predict
656Phosphoserine(PKG)HMM predict
749N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015350
  • Location:chr1 89796859-89831802
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 89783617 89784188 571 12957
Gata2 K562GSE18868 89783748 89784193 445 12889
Myc K562GSE19551 89783656 89784193 537 12935
Oct1 H2O2-HelaGSE14283 89791791 89791830 39 5049
Oct1 HelaGSE14283 89788897 89788931 34 7946
Oct1 HelaGSE14283 89791791 89791830 39 5049
SRF k562GSE8489 89785649 89788935 3286 9568
TAF k562GSE8489 89778980 89779550 570 17595
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 89837187 89837540 353 5561
CTCF CD4SISSRdata 89837187 89837540 353 5561
CTCF G2GSE9613 89837210 89837726 516 5666
ER MCF7GSE19013 89843617 89844589 972 12301
P300 T30-glioblastomaGSE21026 89843542 89844433 891 12185
RARA MCF7GSE15244 89843499 89844708 1209 12301
TFAP2C MCF7GSE21234 89843843 89844225 382 12232
TFAP2C MCF7GSE21234 89847181 89847381 200 15479
hScc1 BcellGSE12603 89837284 89837576 292 5628
hScc1 CdLSGSE12603 89837041 89837764 723 5600
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 89804659 89805236 577 0
Nanog hESGSE18292 89814297 89814666 369 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
1079 mRNA TA-LRRP chr1 89736292 89771236 2165 mRNA TA-LRRP chr1 89760173 89762498Sense/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