AutismKB 2.0

Annotation Detail for ASPH


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Basic Information Top
Gene Symbol:ASPH ( AAH,BAH,CASQ2BP1,HAAH,JCTN,junctin )
Gene Full Name: aspartate beta-hydroxylase
Band: 8q12.3
Quick LinksEntrez ID:444; OMIM: 600582; Uniprot ID:ASPH_HUMAN; ENSEMBL ID: ENSG00000198363; HGNC ID: 757
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
29Phosphoserine.
452N-linked (GlcNAc...).
706N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
29Phosphoserine.Swiss-Prot 53.0
29PhosphoserinePhospho.ELM 6.0
452N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
706N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
8MethyllysineHMM predict
12N-linkedHMM predict
14Phosphoserine(CDC2)HMM predict
16O-linkedHMM predict
16Phosphoserine(CK1)HMM predict
18Phosphoserine(IKK)HMM predict
18Phosphoserine(CK1)HMM predict
20Phosphoserine(IKK)HMM predict
23O-linkedHMM predict
24O-linkedHMM predict
27O-linkedHMM predict
29Phosphoserine(CDC2)HMM predict
36Phosphothreonine(PKA)HMM predict
115Phosphoserine(IKK)HMM predict
115Phosphoserine(CK1)HMM predict
115O-linkedHMM predict
115Phosphoserine(PKB)HMM predict
204Phosphoserine(CK2)HMM predict
204O-linkedHMM predict
212Phosphotyrosine(SRC)HMM predict
257Phosphotyrosine(Syk)HMM predict
260Phosphotyrosine(Syk)HMM predict
266Phosphotyrosine(Syk)HMM predict
266Phosphotyrosine(SRC)HMM predict
374Phosphoserine(CDK)HMM predict
374Phosphoserine(CDC2)HMM predict
394Phosphoserine(PKA)HMM predict
427Phosphoserine(PKA)HMM predict
452N-linkedHMM predict
458N-linkedHMM predict
477Phosphotyrosine(Syk)HMM predict
583Phosphotyrosine(EGFR)HMM predict
583Phosphotyrosine(INSR)HMM predict
706N-linkedHMM predict
748Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004318
  • Location:chr8 62578375-62789555
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 62789236 62790014 778 70
HIF1 HypoHepG2 62789624 62790137 513 325
PHF8 HeLaGSE20725 62788995 62790500 1505 192
STAT1 HeLaGSE12783 62803218 62804958 1740 14533
USF1 HepG2E 62790056 62790783 727 864
hScc1 BcellGSE12603 62789153 62790014 861 28
hScc1 CdLSGSE12603 62789112 62790014 902 8
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 62638494 62638754 260 0
CTCF CD4GSE12889 62689056 62689376 320 0
CTCF CD4SISSRdata 62638494 62638754 260 0
CTCF CD4SISSRdata 62689056 62689376 320 0
CTCF G2GSE9613 62629198 62629344 146 0
CTCF G2GSE9613 62638392 62638942 550 0
CTCF G2GSE9613 62653277 62654983 1706 0
FOXA1 MCF7GSE15244 62653277 62654670 1393 0
Fos K562GSE19551 62666534 62667108 574 0
GABP HelaGSE8489 62612026 62612456 430 0
GATA3 MCF7GSE15244 62580761 62581092 331 0
KLF4 hESGSE17917 62666714 62666923 209 0
Nanog ESGSE20650 62638373 62638582 209 0
Nanog hESGSE18292 62638426 62638678 252 0
Oct1 H2O2-HelaGSE14283 62663211 62663242 31 0
Oct1 H2O2-HelaGSE14283 62683590 62683617 27 0
Oct1 HelaGSE14283 62663211 62663250 39 0
P300 T30-glioblastomaGSE21026 62666303 62667268 965 0
RARA MCF7GSE15244 62653502 62654569 1067 0
RARG MCF7GSE15244 62653277 62654428 1151 0
TFAP2C MCF7GSE21234 62652969 62653406 437 0
hScc1 BcellGSE12603 62638392 62639123 731 0
hScc1 BcellGSE12603 62654176 62654983 807 0
hScc1 CdLSGSE12603 62638261 62639087 826 0
hScc1 G2GSE9613 62638352 62638833 481 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
25501 HTC chr8 62654627 62655022 395 mRNA ASPH chr8 62578373 62789556 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


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