AutismKB 2.0

Annotation Detail for FAM123B


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Basic Information Top
Gene Symbol:FAM123B ( AMER1,FLJ39827,OSCS,WTX )
Gene Full Name: family with sequence similarity 123B
Band: Xq11.2
Quick LinksEntrez ID:139285; OMIM: 300647; Uniprot ID:F123B_HUMAN; ENSEMBL ID: ENSG00000184675; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
242Phosphothreonine.
246Phosphoserine.
250Phosphothreonine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
1AcetylmethionineHMM predict
19O-linkedHMM predict
41O-linkedHMM predict
41O-linkedHMM predict
42O-linkedHMM predict
42Phosphoserine(IKK)HMM predict
42O-linkedHMM predict
42O-linkedHMM predict
45O-linkedHMM predict
45Phosphoserine(CK1)HMM predict
46O-linkedHMM predict
130Phosphoserine(ATM)HMM predict
151Phosphothreonine(PKC)HMM predict
182Phosphoserine(PKG)HMM predict
210O-linkedHMM predict
240O-linkedHMM predict
240Phosphoserine(CDC2)HMM predict
242O-linkedHMM predict
242O-linkedHMM predict
242O-linkedHMM predict
242Phosphothreonine(CDK)HMM predict
242Phosphothreonine(MAPK)HMM predict
246O-linkedHMM predict
246Phosphoserine(ATM)HMM predict
279Phosphoserine(CK2)HMM predict
280Phosphoserine(CK1)HMM predict
286Phosphoserine(IKK)HMM predict
286Phosphoserine(MAPK)HMM predict
286Phosphoserine(ATM)HMM predict
324Phosphoserine(IKK)HMM predict
356Phosphothreonine(PKC)HMM predict
408SulfotyrosineHMM predict
430Phosphoserine(ATM)HMM predict
430O-linkedHMM predict
436Phosphotyrosine(INSR)HMM predict
471Phosphotyrosine(Syk)HMM predict
471SulfotyrosineHMM predict
472SulfotyrosineHMM predict
472Phosphotyrosine(Syk)HMM predict
472Phosphotyrosine(EGFR)HMM predict
509Phosphotyrosine(Syk)HMM predict
514Phosphoserine(CK1)HMM predict
609Phosphotyrosine(INSR)HMM predict
687O-linkedHMM predict
688O-linkedHMM predict
690Phosphoserine(CK2)HMM predict
715Phosphoserine(IKK)HMM predict
740Phosphoserine(CDC2)HMM predict
764N-linkedHMM predict
787Phosphoserine(IKK)HMM predict
789Phosphoserine(ATM)HMM predict
790Phosphoserine(CK1)HMM predict
794Phosphoserine(CK1)HMM predict
893PhosphoserineHMM predict
895Phosphoserine(CAMK2)HMM predict
895Phosphoserine(PKA)HMM predict
928Phosphoserine(ATM)HMM predict
928Phosphoserine(CK1)HMM predict
928Phosphoserine(CK2)HMM predict
928Phosphoserine(CK2)HMM predict
944Phosphoserine(CDC2)HMM predict
956Phosphotyrosine(SRC)HMM predict
958C-linkedHMM predict
985Phosphoserine(ATM)HMM predict
987Phosphoserine(CDC2)HMM predict
987Phosphoserine(CDK)HMM predict
1006Phosphoserine(ATM)HMM predict
1062Phosphoserine(CK1)HMM predict
1064O-linkedHMM predict
1068Phosphoserine(CDC2)HMM predict
1068O-linkedHMM predict
1070Phosphoserine(CDC2)HMM predict
1070O-linkedHMM predict
1070Phosphoserine(CDK)HMM predict
1110Phosphoserine(CK1)HMM predict
1119Phosphoserine(IKK)HMM predict
1122O-linkedHMM predict
1125Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_152424
  • Location:chrX 63321722-63342348
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 63343305 63343530 225 1069
Fos K562GSE19551 63342096 63343081 985 240
NFkBII GM12878GSE19485 63342275 63343611 1336 595
PHF8 HeLaGSE20725 63341544 63343347 1803 97
PHF8 Hs68plusFBSGSE20725 63341993 63343336 1343 316
Rb GrowingGSE19898 63348207 63348387 180 5949
hScc1 G2GSE9613 63341718 63343096 1378 59
p130 SenescentGSE19898 63342628 63342960 332 446
p130 shRbQuiescentGSE19898 63342546 63343062 516 456
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 63304863 63304901 38 16841
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 63340762 63340940 178 0
CTCF G2GSE9613 63341544 63342856 1312 0
ER Fulvestrant-MCF7GSE14664 63325458 63325493 35 0
TFAP2C MCF7GSE21234 63337946 63338455 509 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