AutismKB 2.0

Annotation Detail for SEZ6L2


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Basic Information Top
Gene Symbol:SEZ6L2 ( FLJ90517,PSK-1 )
Gene Full Name: seizure related 6 homolog (mouse)-like 2
Band: 16p11.2
Quick LinksEntrez ID:26470; OMIM: NA; Uniprot ID:SE6L2_HUMAN; ENSEMBL ID: ENSG00000174938; HGNC ID: 30844
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
176N-linked (GlcNAc...) (Potential).
222N-linked (GlcNAc...) (Potential).
247N-linked (GlcNAc...) (Potential).
332N-linked (GlcNAc...) (Potential).
355N-linked (GlcNAc...) (Potential).
373N-linked (GlcNAc...) (Potential).
473N-linked (GlcNAc...) (Potential).
517N-linked (GlcNAc...) (Potential).
641N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012410
  • Location:chr16 29790331-29817911
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 29793207 29793738 531 0
CTCF G2GSE9613 29792231 29792550 319 0
Fos K562GSE19551 29802808 29803160 352 0
NRSF JurkatGSE13047 29816268 29817582 1314 0
NRSF mAbJurkat 29814319 29814749 430 0
NRSF mAbJurkat 29815539 29815701 162 0
NRSF mAbJurkat 29816516 29818098 1582 0
NRSF-mono JurkatQuESTdata 29816638 29817545 907 0
NRSF pAbJurkat 29815539 29815701 162 0
NRSF pAbJurkat 29816516 29818142 1626 0
NRSF-poly JurkatQuESTdata 29816363 29817582 1219 0
Oct1 H2O2-HelaGSE14283 29805621 29805655 34 0
Oct1 HelaGSE14283 29798939 29798968 29 0
hScc1 BcellGSE12603 29811463 29811832 369 0
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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