AutismKB 2.0

Annotation Detail for OXA1L


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Basic Information Top
Gene Symbol:OXA1L ( MGC133129,OXA1 )
Gene Full Name: oxidase (cytochrome c) assembly 1-like
Band: 14q11.2
Quick LinksEntrez ID:5018; OMIM: 601066; Uniprot ID:OXA1L_HUMAN; ENSEMBL ID: ENSG00000155463; HGNC ID: 8526
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
18Phosphoserine(CDK)HMM predict
24Phosphoserine(IKK)HMM predict
24Phosphoserine(CAMK2)HMM predict
47S-palmitoylHMM predict
48S-palmitoylHMM predict
63Phosphoserine(IKK)HMM predict
63O-linkedHMM predict
85O-linkedHMM predict
85O-linkedHMM predict
85O-linkedHMM predict
85Phosphothreonine(MAPK)HMM predict
87Phosphoserine(MAPK)HMM predict
87Phosphoserine(IKK)HMM predict
87O-linkedHMM predict
89O-linkedHMM predict
195Phosphotyrosine(Syk)HMM predict
263Phosphotyrosine(INSR)HMM predict
272O-linkedHMM predict
419Phosphoserine(CK2)HMM predict
420Phosphoserine(CDK)HMM predict
420Phosphoserine(CDC2)HMM predict
422Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005015
  • Location:chr14 22305570-22310605
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 22305283 22305566 283 146
TAF HelaGSE8489 22305283 22305746 463 56
USF1 HepG2E 22305283 22305829 546 15
hScc1 BcellGSE12603 22305283 22305781 498 39
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Breast-CancerGSE22609 22305455 22306286 831 0
ETS1 JurkatGSE17954 22305172 22306191 1019 0
H3ac HepG2E 22305283 22307767 2484 0
KLF4 hESGSE17917 22305530 22305833 303 0
P300 T30-glioblastomaGSE21026 22305327 22306242 915 0
PHF8 HeLaGSE20725 22305337 22306559 1222 0
RARA MCF7GSE15244 22305283 22306127 844 0
RARG MCF7GSE15244 22305283 22306377 1094 0
TAF k562GSE8489 22305283 22307696 2413 0
TAF k562GSE8489 22308460 22309138 678 0
TAFII hESGSE17917 22305311 22306075 764 0
TFAP2C MCF7GSE21234 22305479 22306474 995 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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