AutismKB 2.0

Annotation Detail for ASTN1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ASTN1 ( ASTN,KIAA1747 )
Gene Full Name: astrotactin 1
Band: 1q25.2
Quick LinksEntrez ID:460; OMIM: 600904; Uniprot ID:ASTN1_HUMAN; ENSEMBL ID: ENSG00000152092; HGNC ID: 773
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
54Phosphoserine (By similarity).
115N-linked (GlcNAc...) (Potential).
226N-linked (GlcNAc...) (Potential).
382N-linked (GlcNAc...) (Potential).
453N-linked (GlcNAc...) (Potential).
729N-linked (GlcNAc...) (Potential).
742N-linked (GlcNAc...) (Potential).
804N-linked (GlcNAc...) (Potential).
984N-linked (GlcNAc...) (Potential).
1088Phosphoserine (By similarity).
1277Phosphoserine.
Location(AA) Modifications Resource
115N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
226N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
382N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
453N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
729N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
742N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
804N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
984N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
12S-palmitoylHMM predict
13S-palmitoylHMM predict
58Phosphoserine(ATM)HMM predict
115N-linkedHMM predict
137O-linkedHMM predict
226N-linkedHMM predict
287Phosphothreonine(MAPK)HMM predict
368Phosphoserine(PKC)HMM predict
372Phosphoserine(PKG)HMM predict
372Phosphoserine(PKC)HMM predict
376Phosphoserine(CDK)HMM predict
376Phosphoserine(CDC2)HMM predict
376PhosphoserineHMM predict
379Phosphoserine(CDK)HMM predict
379Phosphoserine(CDC2)HMM predict
382N-linkedHMM predict
390O-linkedHMM predict
453N-linkedHMM predict
455Phosphoserine(ATM)HMM predict
496PhosphotyrosineHMM predict
557Phosphoserine(IKK)HMM predict
729N-linkedHMM predict
790Phosphoserine(CK1)HMM predict
793Phosphothreonine(CDC2)HMM predict
804N-linkedHMM predict
834Phosphoserine(ATM)HMM predict
870Phosphotyrosine(SRC)HMM predict
901Phosphoserine(CDC2)HMM predict
903Phosphoserine(ATM)HMM predict
903Phosphoserine(CK2)HMM predict
906Phosphoserine(CK2)HMM predict
906Phosphoserine(CK1)HMM predict
928O-linkedHMM predict
958O-linkedHMM predict
959Phosphoserine(CDC2)HMM predict
959Phosphoserine(ATM)HMM predict
962PhosphothreonineHMM predict
962Phosphothreonine(CDC2)HMM predict
984N-linkedHMM predict
1073Phosphothreonine(PKA)HMM predict
1099Phosphoserine(IKK)HMM predict
1128SulfotyrosineHMM predict
1142Phosphoserine(PKG)HMM predict
1207Phosphotyrosine(Syk)HMM predict
1231Phosphoserine(ATM)HMM predict
1254Phosphoserine(PKG)HMM predict
1255Phosphoserine(PKA)HMM predict
1296SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_207108
  • Location:chr1 175104576-175400646
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 175114644 175115029 385 0
CTCF G2GSE9613 175116841 175117261 420 0
CTCF G2GSE9613 175133094 175134014 920 0
CTCF G2GSE9613 175140050 175140601 551 0
CTCF G2GSE9613 175184915 175185583 668 0
ER E2-MCF7GSE14664 175207358 175207413 55 0
ER E2-MCF7GSE14664 175238951 175238996 45 0
ER Fulvestrant-MCF7GSE14664 175238956 175238993 37 0
Gata2 K562GSE18868 175115500 175116341 841 0
H3K27me3 colorectalcancer 175398230 175400175 1945 0
Myc K562GSE19551 175184700 175185221 521 0
Nanog hESGSE18292 175308159 175308402 243 0
Oct1 HelaGSE14283 175191355 175191399 44 0
Oct1 HelaGSE14283 175191822 175191888 66 0
Oct1 HelaGSE14283 175236104 175236149 45 0
Oct1 HelaGSE14283 175238957 175238995 38 0
Oct1 HelaGSE14283 175342778 175342816 38 0
Stat6 IL-4-hr4GSE17850 175160672 175161306 634 0
TAFII hESGSE17917 175116841 175117179 338 0
hScc1 BcellGSE12603 175116841 175117049 208 0
hScc1 BcellGSE12603 175133094 175133799 705 0
hScc1 BcellGSE12603 175268304 175268484 180 0
hScc1 CdLSGSE12603 175116841 175117224 383 0
hScc1 CdLSGSE12603 175133094 175134014 920 0
hScc1 G2GSE9613 175133094 175134014 920 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