AutismKB 2.0

Annotation Detail for ADAM17


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Basic Information Top
Gene Symbol:ADAM17 ( ADAM18,CD156B,CSVP,MGC71942,TACE )
Gene Full Name: ADAM metallopeptidase domain 17
Band: 2p25.1
Quick LinksEntrez ID:6868; OMIM: 603639; Uniprot ID:ADA17_HUMAN; ENSEMBL ID: ENSG00000151694; HGNC ID: 195
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
103N-linked (GlcNAc...) (Potential).
157N-linked (GlcNAc...) (Potential).
174N-linked (GlcNAc...) (Potential).
189Cysteine switch (By similarity).
264N-linked (GlcNAc...) (Potential).
379Phosphotyrosine.
382Phosphoserine.
452N-linked (GlcNAc...) (Potential).
498N-linked (GlcNAc...) (Potential).
539N-linked (GlcNAc...) (Potential).
551N-linked (GlcNAc...) (Potential).
594N-linked (GlcNAc...) (Potential).
735Phosphothreonine; by MAPK.
738SH3-binding (Potential).
748SH3-binding (Potential).
791Phosphoserine.
819Phosphoserine.
Location(AA) Modifications Resource
103N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
157N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
174N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
264N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
379Phosphotyrosine.Swiss-Prot 53.0
379PhosphotyrosinePhospho.ELM 6.0
382PhosphoserinePhospho.ELM 6.0
382Phosphoserine.Swiss-Prot 53.0
452N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
498N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
539N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
551N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
594N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
735Phosphothreonine (by MAPK).Swiss-Prot 53.0
735Phosphothreonine (MAPK3)Phospho.ELM 6.0
791Phosphoserine.Swiss-Prot 53.0
791PhosphoserinePhospho.ELM 6.0
819Phosphoserine (Lck)Phospho.ELM 6.0
819Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
40Phosphoserine(CK1)HMM predict
103N-linkedHMM predict
157N-linkedHMM predict
186Phosphotyrosine(Jak)HMM predict
262Phosphotyrosine(EGFR)HMM predict
273MethyllysineHMM predict
287Phosphoserine(CDC2)HMM predict
355Phosphoserine(CDC2)HMM predict
452N-linkedHMM predict
459Phosphotyrosine(INSR)HMM predict
498N-linkedHMM predict
503N-linkedHMM predict
521S-palmitoylHMM predict
522S-palmitoylHMM predict
539N-linkedHMM predict
551N-linkedHMM predict
594N-linkedHMM predict
598N-linkedHMM predict
702Phosphotyrosine(Syk)HMM predict
735Phosphothreonine(CDC2)HMM predict
735Phosphothreonine(MAPK)HMM predict
735Phosphothreonine(CDK)HMM predict
747O-linkedHMM predict
767Phosphoserine(CK1)HMM predict
811LeucineHMM predict
819Phosphoserine(CK1)HMM predict
819PhosphoserineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003183
  • Location:chr2 9546863-9613367
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FoxA1 MCF7MACSdata 9616651 9616872 221 3394
H3K4me3 colorectalcancer 9614139 9614733 594 1069
H3ac HepG2E 9613854 9614912 1058 1016
P300 T0-glioblastomaGSE21026 9622879 9623499 620 9822
P300 T30-glioblastomaGSE21026 9622693 9623668 975 9813
PHF8 293TGSE20725 9612823 9614280 1457 184
PHF8 HeLaGSE20725 9612866 9614413 1547 272
TAF k562GSE8489 9614070 9614912 842 1124
TFAP2C MCF7GSE21234 9616597 9617219 622 3541
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 9612637 9613795 1158 0
ETS1 JurkatGSE17954 9612873 9613848 975 0
Fos K562GSE19551 9610021 9610659 638 0
GABP k562GSE8489 9611665 9613117 1452 0
H3K4me2 HCT116GSE10453 9611665 9613152 1487 0
H3K4me3 colorectalcancer 9612121 9613117 996 0
H3ac HepG2E 9611870 9613272 1402 0
Oct1 H2O2-HelaGSE14283 9595850 9595878 28 0
Oct1 HelaGSE14283 9569359 9569396 37 0
Oct1 HelaGSE14283 9595841 9595884 43 0
P300 T30-glioblastomaGSE21026 9595640 9596237 597 0
TAF HelaGSE8489 9611665 9613194 1529 0
TAF k562GSE8489 9611665 9613117 1452 0
hScc1 BcellGSE12603 9612737 9613493 756 0
hScc1 G2GSE9613 9612601 9613753 1152 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-122 hsa-mir-122 18 19296470
hsa-miR-122 hsa-mir-122 18 19296470
hsa-miR-122* hsa-mir-122 18 19296470
hsa-miR-122* hsa-mir-122 18 19296470
hsa-miR-145 hsa-mir-145 5 20098684
hsa-miR-145 hsa-mir-145 5 20098684
hsa-miR-145* hsa-mir-145 5 20098684
hsa-miR-145* hsa-mir-145 5 20098684
hsa-miR-206 hsa-mir-206 6 20682640
hsa-miR-206 hsa-mir-206 6 20682640
No data
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
13894 mRNA LOC285148 chr2 9565280 9580453 443 mRNA ADAM17 chr2 9580010 9646496Sense/Antisense (SA) 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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