AutismKB 2.0

Annotation Detail for PNPLA7


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Basic Information Top
Gene Symbol:PNPLA7 ( C9orf111,FLJ31318,FLJ43070,FLJ44279,NTE-R1,NTEL1 )
Gene Full Name: patatin-like phospholipase domain containing 7
Band: 9q34.3
Quick LinksEntrez ID:375775; OMIM: 612122; Uniprot ID:PLPL7_HUMAN; ENSEMBL ID: ENSG00000130653; HGNC ID: 24768
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
355Phosphoserine (By similarity).
728N-linked (GlcNAc...) (Potential).
963GXSXG.
975N-linked (GlcNAc...) (Potential).
1014N-linked (GlcNAc...) (Potential).
1233N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_152286
  • Location:chr9 139474225-139564656
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FoxA1 MCF7MACSdata 139564607 139564784 177 39
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 139475615 139477487 1872 0
CBP T0-glioblastomaGSE21026 139496346 139496882 536 0
CBP T30-glioblastomaGSE21026 139496190 139497081 891 0
CTCF CD4GSE12889 139549097 139549395 298 0
CTCF CD4SISSRdata 139549097 139549395 298 0
ER MCF7GSE19013 139527998 139530031 2033 0
ETS1 JurkatGSE17954 139476063 139476788 725 0
FOXA1 MCF7GSE15244 139548861 139549217 356 0
FOXA1 MCF7GSE15244 139564086 139565035 949 0
Fos K562GSE19551 139525934 139526528 594 0
Fos K562GSE19551 139533280 139533855 575 0
H3ac HepG2E 139480598 139481401 803 0
HIF1 HypoHepG2 139477310 139478249 939 0
KLF4 hESGSE17917 139500336 139500757 421 0
Myc K562GSE19551 139548912 139549592 680 0
P300 T0-glioblastomaGSE21026 139495911 139496905 994 0
P300 T30-glioblastomaGSE21026 139496197 139497097 900 0
RARA MCF7GSE15244 139527794 139528351 557 0
Rb shRbQuiescentGSE19898 139533332 139533599 267 0
TAF k562GSE8489 139548817 139549217 400 0
TFAP2C MCF7GSE21234 139493693 139494424 731 0
TFAP2C MCF7GSE21234 139496174 139496993 819 0
TFAP2C MCF7GSE21234 139516188 139517083 895 0
TFAP2C MCF7GSE21234 139561830 139562845 1015 0
TFAP2C MCF7GSE21234 139563771 139564987 1216 0
USF1 HepG2E 139539003 139539163 160 0
USF1 HepG2E 139546725 139549217 2492 0
USF1 HepG2E 139550982 139551417 435 0
USF2 HepG2E 139546913 139549217 2304 0
hScc1 BcellGSE12603 139476474 139477060 586 0
hScc1 BcellGSE12603 139480528 139481437 909 0
hScc1 BcellGSE12603 139495207 139495548 341 0
hScc1 BcellGSE12603 139498810 139499247 437 0
hScc1 BcellGSE12603 139499931 139500524 593 0
hScc1 BcellGSE12603 139500971 139501410 439 0
hScc1 BcellGSE12603 139503046 139503548 502 0
hScc1 BcellGSE12603 139510030 139510247 217 0
hScc1 BcellGSE12603 139521160 139521525 365 0
hScc1 BcellGSE12603 139548738 139549217 479 0
hScc1 BcellGSE12603 139554877 139555162 285 0
hScc1 BcellGSE12603 139562416 139562715 299 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