AutismKB 2.0

Annotation Detail for AHI1


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Basic Information Top
Gene Symbol:AHI1 ( AHI-1,DKFZp686J1653,FLJ14023,FLJ20069,JBTS3,ORF1,dJ71N10.1 )
Gene Full Name: Abelson helper integration site 1
Band: 6q23.3
Quick LinksEntrez ID:54806; OMIM: 608894; Uniprot ID:AHI1_HUMAN; ENSEMBL ID: ENSG00000135541; HGNC ID: 21575
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1123Phosphoserine.
1127Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
43N-linkedHMM predict
45Phosphoserine(ATM)HMM predict
55Phosphotyrosine(INSR)HMM predict
83Phosphoserine(IKK)HMM predict
94Phosphothreonine(PKA)HMM predict
116Phosphoserine(CK2)HMM predict
145Phosphothreonine(MAPK)HMM predict
145Phosphothreonine(CDC2)HMM predict
253O-linkedHMM predict
271Phosphoserine(CK1)HMM predict
274Phosphoserine(CK1)HMM predict
283Phosphoserine(CK2)HMM predict
283Phosphoserine(CK1)HMM predict
284Phosphoserine(CK1)HMM predict
304Phosphothreonine(PKC)HMM predict
399Phosphotyrosine(INSR)HMM predict
440Phosphoserine(ATM)HMM predict
460N-linkedHMM predict
461N-linkedHMM predict
466N-linkedHMM predict
507Phosphoserine(CDC2)HMM predict
570Phosphoserine(CK1)HMM predict
571Phosphoserine(ATM)HMM predict
571Phosphoserine(CK1)HMM predict
614S-palmitoylHMM predict
668Phosphotyrosine(INSR)HMM predict
668Phosphotyrosine(Jak)HMM predict
686N-linkedHMM predict
687N-linkedHMM predict
689N-linkedHMM predict
783Phosphoserine(CK1)HMM predict
799MethyllysineHMM predict
852PhosphothreonineHMM predict
934N-linkedHMM predict
945Phosphoserine(ATM)HMM predict
952S-palmitoylHMM predict
985Phosphothreonine(PKC)HMM predict
1000N-linkedHMM predict
1005Phosphoserine(MAPK)HMM predict
1010O-linkedHMM predict
1065N-linkedHMM predict
1112Phosphotyrosine(SRC)HMM predict
1127Phosphoserine(ATM)HMM predict
1127Phosphoserine(MAPK)HMM predict
1127Phosphoserine(CDC2)HMM predict
1170Phosphoserine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017651
  • Location:chr6 135646817-135860575
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 135869099 135869447 348 8698
CTCF CD4SISSRdata 135869099 135869447 348 8698
H3K4me2 HCT116GSE10453 135861003 135862130 1127 991
H3ac HepG2E 135861003 135861780 777 816
PHF8 HeLaGSE20725 135860068 135861323 1255 120
PHF8 Hs68plusFBSGSE20725 135860120 135861876 1756 423
TAF HelaGSE8489 135860886 135862177 1291 956
TAF k562GSE8489 135860842 135863014 2172 1353
hScc1 BcellGSE12603 135869145 135869584 439 8789
hScc1 CdLSGSE12603 135869107 135869622 515 8789
hScc1 G2GSE9613 135869107 135869622 515 8789
p130 shRbQuiescentGSE19898 135860495 135861728 1233 536
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 135633999 135634593 594 12522
TFAP2C MCF7GSE21234 135633893 135634471 578 12636
hScc1 CdLSGSE12603 135642217 135642397 180 4511
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 135684568 135687159 2591 0
CBP T0-glioblastomaGSE21026 135739714 135739921 207 0
CTCF CD4GSE12889 135814492 135814892 400 0
CTCF CD4SISSRdata 135814492 135814892 400 0
CTCF G2GSE9613 135860235 135860842 607 0
Fos K562GSE19551 135654465 135655318 853 0
Gata2 K562GSE18868 135685582 135686616 1034 0
H3ac HepG2E 135859779 135860425 646 0
Jun K562GSE19551 135654536 135655015 479 0
Myc K562GSE19551 135662227 135662411 184 0
Nanog ESGSE20650 135763425 135763714 289 0
Oct1 H2O2-HelaGSE14283 135714721 135714759 38 0
Oct1 H2O2-HelaGSE14283 135842115 135842163 48 0
Oct1 HelaGSE14283 135714688 135714754 66 0
Oct1 HelaGSE14283 135749435 135749467 32 0
Oct1 HelaGSE14283 135842114 135842162 48 0
Oct1 HelaGSE14283 135844590 135844621 31 0
P300 T0-glioblastomaGSE21026 135739714 135740189 475 0
Rb GrowingGSE19898 135675404 135675745 341 0
Stat6 IL-4-hr4GSE17850 135808953 135809486 533 0
TAF HelaGSE8489 135859297 135860425 1128 0
TAF k562GSE8489 135859263 135860565 1302 0
hScc1 BcellGSE12603 135786429 135786904 475 0
hScc1 BcellGSE12603 135814474 135814764 290 0
hScc1 BcellGSE12603 135860235 135860601 366 0
hScc1 CdLSGSE12603 135693477 135693733 256 0
hScc1 CdLSGSE12603 135786393 135786874 481 0
hScc1 CdLSGSE12603 135801684 135801951 267 0
hScc1 CdLSGSE12603 135814382 135814795 413 0
hScc1 G2GSE9613 135860276 135860797 521 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
23208 EST chr6 135608803 135669987 23170 mRNA AHI1 chr6 135646817 135860576 Non-exonic Bidirectional (NOB) 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