AutismKB 2.0

Annotation Detail for COLEC12


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Basic Information Top
Gene Symbol:COLEC12 ( CLP1,NSR2,SCARA4,SRCL )
Gene Full Name: collectin sub-family member 12
Band: 18p11.32
Quick LinksEntrez ID:81035; OMIM: 607621; Uniprot ID:COL12_HUMAN; ENSEMBL ID: ENSG00000158270; HGNC ID: 16016
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
67N-linked (GlcNAc...) (Potential).
126Phosphothreonine (By similarity).
159N-linked (GlcNAc...) (Potential).
168N-linked (GlcNAc...) (Potential).
271N-linked (GlcNAc...) (Potential).
359Phosphothreonine (By similarity).
361Phosphothreonine (By similarity).
362Phosphoserine (By similarity).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_130386
  • Location:chr18 309355-490684
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 504525 505234 709 14195
H3K27me3 colorectalcancer 491567 492031 464 1115
TAF HelaGSE8489 496061 496780 719 5736
TFAP2C MCF7GSE21234 493806 494270 464 3354
hScc1 BcellGSE12603 504227 505447 1220 14153
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 486917 487357 440 0
CTCF G2GSE9613 490235 490573 338 0
ER MCF7GSE19013 489242 490195 953 0
FOXA1 MCF7GSE15244 489311 490018 707 0
FOXA1 eGFPGSE10845 489311 490018 707 0
FoxA1 MCF7MACSdata 389281 389565 284 0
FoxA1 MCF7MACSdata 489454 489738 284 0
Myc K562GSE19551 312456 313020 564 0
P300 T30-glioblastomaGSE21026 312259 313276 1017 0
RARA MCF7GSE15244 488951 490018 1067 0
TFAP2C MCF7GSE21234 389207 389803 596 0
TFAP2C MCF7GSE21234 439355 439912 557 0
TFAP2C MCF7GSE21234 489170 489953 783 0
hScc1 BcellGSE12603 324664 325034 370 0
hScc1 BcellGSE12603 490045 490573 528 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


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