AutismKB 2.0

Annotation Detail for SERPIND1


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Basic Information Top
Gene Symbol:SERPIND1 ( D22S673,HC2,HCF2,HCII,HLS2,LS2 )
Gene Full Name: serpin peptidase inhibitor, clade D (heparin cofactor), member 1
Band: 22q11.21
Quick LinksEntrez ID:3053; OMIM: 142360; Uniprot ID:HEP2_HUMAN; ENSEMBL ID: ENSG00000099937; HGNC ID: 4838
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
37Phosphoserine.
49N-linked (GlcNAc...).
79Sulfotyrosine.
92Sulfotyrosine.
188N-linked (GlcNAc...).
387N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
49N-linked (GlcNAc...).Swiss-Prot 53.0
79Sulfotyrosine.Swiss-Prot 53.0
92Sulfotyrosine.Swiss-Prot 53.0
188N-linked (GlcNAc...).Swiss-Prot 53.0
387N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
79SulfotyrosineHMM predict
79Phosphotyrosine(Syk)HMM predict
79Phosphotyrosine(EGFR)HMM predict
79Phosphotyrosine(INSR)HMM predict
79Phosphotyrosine(Jak)HMM predict
79PhosphotyrosineHMM predict
92PhosphotyrosineHMM predict
92Phosphotyrosine(INSR)HMM predict
92Phosphotyrosine(EGFR)HMM predict
92SulfotyrosineHMM predict
92Phosphotyrosine(Syk)HMM predict
98O-linkedHMM predict
102Phosphoserine(IKK)HMM predict
102Phosphoserine(ATM)HMM predict
102Phosphoserine(CDK)HMM predict
102Phosphoserine(CDC2)HMM predict
104O-linkedHMM predict
191Phosphoserine(CK1)HMM predict
244Phosphotyrosine(Jak)HMM predict
374Phosphothreonine(MAPK)HMM predict
387N-linkedHMM predict
453O-linkedHMM predict
454O-linkedHMM predict
470Phosphothreonine(PKC)HMM predict
486CysteineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000185
  • Location:chr22 19458382-19472007
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 19461721 19462679 958 0
CTCF CD4GSE12889 19468515 19468837 322 0
CTCF CD4SISSRdata 19468515 19468837 322 0
FOXA1 MCF7GSE15244 19461939 19462476 537 0
FoxA1 MCF7MACSdata 19461981 19462408 427 0
H3ac HepG2E 19459324 19459533 209 0
H3ac HepG2E 19462811 19463345 534 0
P300 T0-glioblastomaGSE21026 19461911 19462740 829 0
P300 T30-glioblastomaGSE21026 19461739 19462656 917 0
RARA MCF7GSE15244 19461939 19462476 537 0
RARA MCF7GSE15244 19462811 19463036 225 0
RARG MCF7GSE15244 19461939 19462476 537 0
RARG MCF7GSE15244 19462811 19464265 1454 0
hScc1 BcellGSE12603 19468219 19468467 248 0
hScc1 CdLSGSE12603 19468398 19469042 644 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
17174 mRNA SERPIND1 chr22 19452940 19466562 13622 mRNA PIK4CA chr22 19386544 19517555 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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