AutismKB 2.0

Annotation Detail for LRRC8D


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Basic Information Top
Gene Symbol:LRRC8D ( FLJ10470,FLJ20403,LRRC5 )
Gene Full Name: leucine rich repeat containing 8 family, member D
Band: 1p22.2
Quick LinksEntrez ID:55144; OMIM: 612890; Uniprot ID:LRC8D_HUMAN; ENSEMBL ID: ENSG00000171492; HGNC ID: 16992
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
241Phosphoserine.
242Phosphoserine.
246Phosphoserine.
255N-linked (GlcNAc...) (Potential).
598N-linked (GlcNAc...) (Potential).
605N-linked (GlcNAc...) (Potential).
740N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
255N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
598N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
605N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
740N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
60Phosphoserine(CDC2)HMM predict
60Phosphoserine(CDK)HMM predict
68Phosphothreonine(MAPK)HMM predict
68Phosphothreonine(CDK)HMM predict
68Phosphothreonine(CDC2)HMM predict
240Phosphothreonine(CK2)HMM predict
241Phosphoserine(CK1)HMM predict
242Phosphoserine(CK1)HMM predict
246O-linkedHMM predict
246Phosphoserine(IKK)HMM predict
250O-linkedHMM predict
255N-linkedHMM predict
405Phosphoserine(CK2)HMM predict
426SulfotyrosineHMM predict
598N-linkedHMM predict
605N-linkedHMM predict
687S-palmitoylHMM predict
703Phosphothreonine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018103
  • Location:chr1 90060100-90174146
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 90042775 90043179 404 17124
CTCF CD4SISSRdata 90042775 90043179 404 17124
CTCF JurkatGSE12889 90042862 90043145 283 17097
CTCF G2GSE9613 90042860 90043146 286 17098
FOXA1 MCF7GSE15244 90046529 90047097 568 13288
Fos K562GSE19551 90058829 90059396 567 988
H3K4me3 colorectalcancer 90058414 90058699 285 1544
H3ac HepG2E 90057777 90058862 1085 1781
RNAII Tamoxifen-MCF7GSE14664 90055301 90055361 60 4770
USF1 HepG2E 90057843 90059051 1208 1654
USF2 HepG2E 90058233 90058862 629 1553
hScc1 BcellGSE12603 90042724 90043146 422 17166
hScc1 BcellGSE12603 90046192 90047018 826 13496
hScc1 BcellGSE12603 90058787 90059837 1050 789
hScc1 CdLSGSE12603 90042758 90043208 450 17118
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 90183905 90184516 611 10064
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 90081327 90082114 787 0
CTCF G2GSE9613 90082403 90082568 165 0
CTCF G2GSE9613 90134631 90134804 173 0
FoxA1 MCF7MACSdata 90128347 90128511 164 0
H3K4me3 colorectalcancer 90060396 90060776 380 0
H3ac HepG2E 90060306 90062575 2269 0
H3ac HepG2E 90080624 90081121 497 0
H3ac HepG2E 90082496 90082944 448 0
H3ac HepG2E 90163745 90163934 189 0
Oct1 H2O2-HelaGSE14283 90166012 90166040 28 0
Oct1 HelaGSE14283 90095151 90095260 109 0
Oct1 HelaGSE14283 90105330 90105359 29 0
Oct1 HelaGSE14283 90120119 90120149 30 0
Oct4 hESGSE21916 90075025 90075611 586 0
P300 T30-glioblastomaGSE21026 90103682 90104831 1149 0
RARA MCF7GSE15244 90128379 90128716 337 0
TAF k562GSE8489 90060132 90062575 2443 0
TFAP2C MCF7GSE21234 90128192 90128804 612 0
TFAP2C MCF7GSE21234 90156967 90157261 294 0
hScc1 BcellGSE12603 90081327 90082114 787 0
hScc1 CdLSGSE12603 90081228 90081897 669 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


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