AutismKB 2.0

Annotation Detail for KIAA0100


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Basic Information Top
Gene Symbol:KIAA0100 ( BCOX,BCOX1,CT101,DKFZp686M0843,MGC111488,MGC134981 )
Gene Full Name: KIAA0100
Band: 17q11.2
Quick LinksEntrez ID:9703; OMIM: 610664; Uniprot ID:K0100_HUMAN; ENSEMBL ID: ENSG00000007202; HGNC ID: 28960
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
730N-linked (GlcNAc...) (Potential).
1846Phosphoserine.
Location(AA) Modifications Resource
730N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
110Phosphoserine(ATM)HMM predict
300PhosphothreonineHMM predict
344Phosphoserine(ATM)HMM predict
363O-linkedHMM predict
401Phosphoserine(CDC2)HMM predict
401Phosphoserine(MAPK)HMM predict
401Phosphoserine(CDK)HMM predict
466Phosphothreonine(PKC)HMM predict
520O-linkedHMM predict
547Phosphoserine(PKA)HMM predict
559Phosphoserine(CK2)HMM predict
563Phosphoserine(PKB)HMM predict
563Phosphoserine(IKK)HMM predict
639Phosphothreonine(CDK)HMM predict
657Phosphoserine(CK1)HMM predict
709Phosphoserine(CK1)HMM predict
730N-linkedHMM predict
758Phosphoserine(CK1)HMM predict
811Phosphothreonine(PKC)HMM predict
862Phosphoserine(CDK)HMM predict
862Phosphoserine(CDC2)HMM predict
862O-linkedHMM predict
894SulfotyrosineHMM predict
894Phosphotyrosine(Syk)HMM predict
998Phosphoserine(CDC2)HMM predict
998O-linkedHMM predict
1123Phosphoserine(IKK)HMM predict
1123Phosphoserine(ATM)HMM predict
1158Phosphotyrosine(Syk)HMM predict
1158Phosphotyrosine(Abl)HMM predict
1159N-linkedHMM predict
1163N-linkedHMM predict
1228Phosphothreonine(PKC)HMM predict
1271Phosphoserine(ATM)HMM predict
1350Phosphoserine(ATM)HMM predict
1359Phosphothreonine(PKA)HMM predict
1368Phosphothreonine(PKC)HMM predict
1378Phosphoserine(IKK)HMM predict
1417Phosphoserine(CAMK2)HMM predict
1428N-linkedHMM predict
1473Phosphotyrosine(Syk)HMM predict
1509Phosphoserine(IKK)HMM predict
1522Phosphoserine(ATM)HMM predict
1534Phosphotyrosine(INSR)HMM predict
1769Phosphotyrosine(Abl)HMM predict
1805Phosphoserine(CK2)HMM predict
1939Phosphotyrosine(Jak)HMM predict
1977Phosphoserine(IKK)HMM predict
2090Phosphoserine(PKC)HMM predict
2094Phosphoserine(CDC2)HMM predict
2112N-linkedHMM predict
2113N-linkedHMM predict
2117Phosphotyrosine(EGFR)HMM predict
2152N-linkedHMM predict
2153N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014680
  • Location:chr17 23965585-23996299
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 23996189 23996469 280 30
KLF4 hESGSE17917 23996086 23996514 428 1
Myc hESGSE17917 23996359 23996671 312 216
PHF8 HeLaGSE20725 23995737 23996985 1248 62
Rb SenescentGSE19898 23996216 23996525 309 71
p130 shRbSenescentGSE19898 23996316 23996530 214 124
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 23995253 23995834 581 0
H3ac HepG2E 23995005 23995974 969 0
Oct1 H2O2-HelaGSE14283 23986528 23986558 30 0
Oct1 HelaGSE14283 23986379 23986410 31 0
Oct1 HelaGSE14283 23986528 23986558 30 0
RARA MCF7GSE15244 23985456 23986823 1367 0
RARG MCF7GSE15244 23986396 23986823 427 0
TFAP2C MCF7GSE21234 23985382 23986007 625 0
hScc1 BcellGSE12603 23965896 23966255 359 0
hScc1 BcellGSE12603 23995805 23996469 664 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
10856 mRNA chr17 23963076 23968521 465 mRNA KIAA0100 chr17 23965585 23996300Sense/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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