AutismKB 2.0

Annotation Detail for ABCF1


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Basic Information Top
Gene Symbol:ABCF1 ( ABC27,ABC50 )
Gene Full Name: ATP-binding cassette, sub-family F (GCN20), member 1
Band: 6p21.33
Quick LinksEntrez ID:23; OMIM: 603429; Uniprot ID:ABCF1_HUMAN; ENSEMBL ID: ENSG00000204574; HGNC ID: 70
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
22Phosphoserine.
24Phosphoserine.
105Phosphoserine.
108Phosphothreonine.
109Phosphoserine; by CK2.
140Phosphoserine; by CK2.
166Phosphoserine.
228Phosphoserine.
595Phosphoserine.
Location(AA) Modifications Resource
105Phosphoserine.Swiss-Prot 53.0
105PhosphoserinePhospho.ELM 6.0
108Phosphothreonine.Swiss-Prot 53.0
108PhosphothreoninePhospho.ELM 6.0
109Phosphoserine.Swiss-Prot 53.0
109PhosphoserinePhospho.ELM 6.0
140Phosphoserine.Swiss-Prot 53.0
228Phosphoserine.Swiss-Prot 53.0
228PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
22Phosphoserine(ATM)HMM predict
79Phosphothreonine(PKA)HMM predict
86MethyllysineHMM predict
109Phosphoserine(ATM)HMM predict
109Phosphoserine(CK2)HMM predict
140PhosphoserineHMM predict
140Phosphoserine(CK2)HMM predict
228PhosphoserineHMM predict
228Phosphoserine(CK1)HMM predict
250Phosphotyrosine(Jak)HMM predict
250Phosphotyrosine(Syk)HMM predict
285Phosphoserine(CK1)HMM predict
287Phosphoserine(ATM)HMM predict
300N-linkedHMM predict
355Phosphoserine(PKG)HMM predict
374Phosphothreonine(MAPK)HMM predict
416Phosphotyrosine(Syk)HMM predict
416Phosphotyrosine(SRC)HMM predict
449Phosphothreonine(PKC)HMM predict
461Phosphoserine(PKG)HMM predict
533Phosphotyrosine(INSR)HMM predict
575Phosphothreonine(PKC)HMM predict
595Phosphoserine(CK1)HMM predict
595Phosphoserine(ATM)HMM predict
621Phosphoserine(MAPK)HMM predict
676Phosphothreonine(MAPK)HMM predict
816Phosphoserine(CK1)HMM predict
818Phosphoserine(ATM)HMM predict
827SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001025091
  • Location:chr6 30647148-30667285
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP k562GSE8489 30645288 30646822 1534 1094
H3K4me2 HCT116GSE10453 30645988 30646604 616 853
H3K4me3 colorectalcancer 30646091 30646496 405 855
H3ac HepG2E 30645911 30646788 877 799
Myc hESGSE17917 30646922 30647228 306 74
PHF8 293TGSE20725 30646611 30647657 1046 15
PHF8 Hs68plusFBSGSE20725 30646285 30647737 1452 138
Rb QuiescentGSE19898 30646968 30647304 336 13
TAF k562GSE8489 30645769 30646743 974 893
USF1 HepG2E 30646237 30646788 551 636
p130 SenescentGSE19898 30646879 30647347 468 36
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 30668805 30668833 28 1534
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 30646972 30647523 551 0
CTCF G2GSE9613 30659409 30659720 311 0
CTCF G2GSE9613 30661166 30661456 290 0
GABP k562GSE8489 30647182 30648243 1061 0
GABP k562GSE8489 30648556 30649858 1302 0
H3K4me3 colorectalcancer 30647395 30648243 848 0
H3ac HepG2E 30647322 30648243 921 0
H3ac HepG2E 30648592 30649831 1239 0
H3ac HepG2E 30650568 30650789 221 0
HIF1 HypoHepG2 30646849 30647488 639 0
NFkBII GM15510GSE19485 30646542 30647861 1319 0
PHF8 HeLaGSE20725 30646629 30647679 1050 0
Rb QuiescentGSE19898 30647328 30647578 250 0
TAFII hESGSE17917 30646940 30647469 529 0
USF1 HepG2E 30647291 30648208 917 0
USF2 HepG2E 30647291 30647720 429 0
hScc1 BcellGSE12603 30647048 30647291 243 0
p130 SenescentGSE19898 30647410 30647698 288 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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