AutismKB 2.0

Annotation Detail for FAM55D


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:FAM55D ( C11orf33,FLJ20127 )
Gene Full Name: family with sequence similarity 55, member D
Band: 11q23.2
Quick LinksEntrez ID:54827; OMIM: NA; Uniprot ID:FA55D_HUMAN; ENSEMBL ID: ENSG00000137634; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
29N-linked (GlcNAc...) (Potential).
38N-linked (GlcNAc...) (Potential).
47N-linked (GlcNAc...) (Potential).
48N-linked (GlcNAc...) (Potential).
92N-linked (GlcNAc...) (Potential).
160N-linked (GlcNAc...) (Potential).
210N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
29N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
38N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
47N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
48N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
92N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
160N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
210N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
29N-linkedHMM predict
47N-linkedHMM predict
48N-linkedHMM predict
92N-linkedHMM predict
94O-linkedHMM predict
95O-linkedHMM predict
96O-linkedHMM predict
144PhosphoserineHMM predict
160N-linkedHMM predict
199Phosphotyrosine(EGFR)HMM predict
210N-linkedHMM predict
313O-linkedHMM predict
367Phosphothreonine(PKC)HMM predict
531ValineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017678
  • Location:chr11 113946523-113971693
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP HelaGSE8489 113979020 113980243 1223 7938
GABP HelaGSE8489 113980746 113982226 1480 9793
GABP HelaGSE8489 113984462 113985614 1152 13345
Oct1 HelaGSE14283 113984682 113984714 32 13005
Oct1 HelaGSE14283 113984811 113984858 47 13141
TFAP2C MCF7GSE21234 113982395 113982735 340 10872
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 113959844 113959883 39 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