AutismKB 2.0

Annotation Detail for ESPNL


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Basic Information Top
Gene Symbol:ESPNL ( FLJ42568,MGC99829 )
Gene Full Name: espin-like
Band: 2q37.3
Quick LinksEntrez ID:339768; OMIM: NA; Uniprot ID:ESPNL_HUMAN; ENSEMBL ID: ENSG00000144488; HGNC ID: 27937
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
786Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_194312
  • Location:chr2 238673764-238706665
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 238673174 238673608 434 374
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 238690408 238691169 761 0
CTCF G2GSE9613 238673676 238674188 512 0
CTCF G2GSE9613 238674557 238676243 1686 0
CTCF G2GSE9613 238676912 238677178 266 0
CTCF G2GSE9613 238677509 238678719 1210 0
CTCF G2GSE9613 238679273 238681618 2345 0
CTCF G2GSE9613 238687992 238688829 837 0
CTCF G2GSE9613 238689575 238689781 206 0
CTCF G2GSE9613 238690361 238691126 765 0
CTCF G2GSE9613 238693417 238693786 369 0
CTCF G2GSE9613 238694110 238694414 304 0
CTCF G2GSE9613 238696866 238697044 178 0
CTCF G2GSE9613 238698436 238698731 295 0
CTCF G2GSE9613 238700588 238701302 714 0
CTCF G2GSE9613 238702177 238702400 223 0
CTCF G2GSE9613 238702968 238703427 459 0
CTCF G2GSE9613 238703700 238704426 726 0
CTCF G2GSE9613 238704828 238706325 1497 0
HIF1 HypoHepG2 238687459 238688461 1002 0
TFAP2C MCF7GSE21234 238680495 238680866 371 0
TFAP2C MCF7GSE21234 238694178 238694487 309 0
hScc1 BcellGSE12603 238673866 238674188 322 0
hScc1 BcellGSE12603 238675102 238675770 668 0
hScc1 BcellGSE12603 238676912 238677101 189 0
hScc1 BcellGSE12603 238677995 238678507 512 0
hScc1 BcellGSE12603 238679317 238681132 1815 0
hScc1 BcellGSE12603 238687702 238688013 311 0
hScc1 BcellGSE12603 238704080 238704592 512 0
hScc1 G2GSE9613 238674985 238676243 1258 0
hScc1 G2GSE9613 238680026 238680979 953 0
p130 shRbQuiescentGSE19898 238700705 238701424 719 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