AutismKB 2.0

Annotation Detail for AP3D1


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Basic Information Top
Gene Symbol:AP3D1 ( ADTD,hBLVR )
Gene Full Name: adaptor-related protein complex 3, delta 1 subunit
Band: 19p13.3
Quick LinksEntrez ID:8943; OMIM: 607246; Uniprot ID:AP3D1_HUMAN; ENSEMBL ID: ENSG00000065000; HGNC ID: 568
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
632Phosphoserine.
634Phosphoserine.
636Phosphoserine.
658Phosphoserine.
686Phosphoserine.
688Phosphoserine.
721Phosphoserine.
758Phosphoserine.
759Phosphoserine.
762Phosphothreonine.
764Phosphoserine.
788Phosphoserine.
829Phosphoserine.
Location(AA) Modifications Resource
632Phosphoserine.Swiss-Prot 53.0
632PhosphoserinePhospho.ELM 6.0
634Phosphoserine.Swiss-Prot 53.0
634PhosphoserinePhospho.ELM 6.0
636Phosphoserine.Swiss-Prot 53.0
636PhosphoserinePhospho.ELM 6.0
658Phosphoserine.Swiss-Prot 53.0
759Phosphoserine (By similarity).Swiss-Prot 53.0
762Phosphothreonine (By similarity).Swiss-Prot 53.0
764Phosphoserine (By similarity).Swiss-Prot 53.0
788Phosphoserine (By similarity).Swiss-Prot 53.0
788PhosphoserinePhospho.ELM 6.0
829Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
121PhosphoserineHMM predict
121Phosphoserine(CK1)HMM predict
124Phosphoserine(ATM)HMM predict
218Phosphotyrosine(INSR)HMM predict
632Phosphoserine(CK2)HMM predict
634Phosphoserine(IKK)HMM predict
636Phosphoserine(CK2)HMM predict
686Phosphoserine(CDC2)HMM predict
688Phosphoserine(CDK)HMM predict
688Phosphoserine(CDC2)HMM predict
693Phosphotyrosine(Syk)HMM predict
724Phosphotyrosine(Jak)HMM predict
758Phosphoserine(PKG)HMM predict
758Phosphoserine(IKK)HMM predict
759Phosphoserine(PKA)HMM predict
759Phosphoserine(PKB)HMM predict
759Phosphoserine(PKG)HMM predict
762Phosphothreonine(CK2)HMM predict
764Phosphoserine(CK2)HMM predict
799Phosphotyrosine(Syk)HMM predict
824Phosphothreonine(PKA)HMM predict
829Phosphoserine(CDC2)HMM predict
869Phosphoserine(CDC2)HMM predict
869Phosphoserine(CDK)HMM predict
922Phosphotyrosine(SRC)HMM predict
923Phosphoserine(CK1)HMM predict
955N-linkedHMM predict
1051O-linkedHMM predict
1102Phosphoserine(IKK)HMM predict
1128Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003938
  • Location:chr19 2051993-2102555
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 2107042 2107336 294 4634
CTCF CD4SISSRdata 2107042 2107336 294 4634
CTCF HelaGSE12889 2107087 2107290 203 4633
CTCF JurkatGSE12889 2107070 2107279 209 4619
CTCF G2GSE9613 2107092 2107271 179 4626
Fos K562GSE19551 2102388 2103347 959 312
Rb GrowingGSE19898 2102617 2102786 169 146
Rb GrowingGSE19898 2102849 2103087 238 413
Rb GrowingGSE19898 2107064 2107339 275 4646
Rb SenescentGSE19898 2102477 2102911 434 139
TFAP2C MCF7GSE21234 2105303 2106088 785 3140
hScc1 BcellGSE12603 2102192 2103002 810 42
hScc1 BcellGSE12603 2107092 2107271 179 4626
hScc1 CdLSGSE12603 2107092 2107271 179 4626
hScc1 G2GSE9613 2107092 2107271 179 4626
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 2054981 2055206 225 0
CTCF G2GSE9613 2069185 2069765 580 0
CTCF G2GSE9613 2071722 2072282 560 0
CTCF G2GSE9613 2073096 2073431 335 0
CTCF G2GSE9613 2102230 2102674 444 0
H3ac HepG2E 2100601 2102101 1500 0
NRSF JurkatGSE13047 2072991 2075437 2446 0
NRSF JurkatGSE13047 2096238 2097372 1134 0
NRSF JurkatSISSRdata 2096861 2097378 517 0
NRSF mAbJurkat 2073096 2073431 335 0
NRSF mAbJurkat 2073765 2075055 1290 0
NRSF mAbJurkat 2096117 2097195 1078 0
NRSF-mono JurkatQuESTdata 2074154 2075364 1210 0
NRSF-mono JurkatQuESTdata 2096378 2097365 987 0
NRSF-poly JurkatQuESTdata 2073040 2075215 2175 0
NRSF-poly JurkatQuESTdata 2096161 2097501 1340 0
TAF k562GSE8489 2054981 2055206 225 0
hScc1 BcellGSE12603 2054767 2055206 439 0
hScc1 BcellGSE12603 2063707 2064418 711 0
hScc1 BcellGSE12603 2071045 2071882 837 0
hScc1 BcellGSE12603 2073167 2073431 264 0
hScc1 BcellGSE12603 2074616 2074848 232 0
hScc1 BcellGSE12603 2079073 2079825 752 0
hScc1 BcellGSE12603 2082409 2082949 540 0
hScc1 BcellGSE12603 2095273 2095597 324 0
hScc1 BcellGSE12603 2096117 2096665 548 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
1131 Unknown pSILAC miR-1 AP3D1 down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000065000 n_a n_a n_a "lymphocyte, leukocyte, epithelium, squamous cell, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma, leukaemia, "
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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