AutismKB 2.0

Annotation Detail for C5


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Basic Information Top
Gene Symbol:C5 ( CPAMD4,FLJ17816,FLJ17822,MGC142298 )
Gene Full Name: complement component 5
Band: 9q33.2
Quick LinksEntrez ID:727; OMIM: 120900; Uniprot ID:CO5_HUMAN; ENSEMBL ID: ENSG00000106804; HGNC ID: 1331
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
741N-linked (GlcNAc...).
911N-linked (GlcNAc...).
1115N-linked (GlcNAc...) (Potential).
1630N-linked (GlcNAc...).
Location(AA) Modifications Resource
741N-linked (GlcNAc...).Swiss-Prot 53.0
911N-linked (GlcNAc...).Swiss-Prot 53.0
1115N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1630N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
210Phosphoserine(CK1)HMM predict
324Phosphotyrosine(Jak)HMM predict
350Phosphoserine(CDC2)HMM predict
490Phosphoserine(CDC2)HMM predict
501Phosphotyrosine(Jak)HMM predict
576Phosphoserine(ATM)HMM predict
678Phosphothreonine(PKC)HMM predict
768Phosphotyrosine(Jak)HMM predict
911N-linkedHMM predict
1064SulfotyrosineHMM predict
1079O-linkedHMM predict
1115N-linkedHMM predict
1121N-linkedHMM predict
1124Phosphotyrosine(Syk)HMM predict
1124Phosphotyrosine(SRC)HMM predict
1185O-linkedHMM predict
1266Phosphotyrosine(INSR)HMM predict
1370Phosphothreonine(CK2)HMM predict
1399Phosphotyrosine(EGFR)HMM predict
1415Phosphoserine(IKK)HMM predict
1415Phosphoserine(CK1)HMM predict
1416O-linkedHMM predict
1417O-linkedHMM predict
1417Phosphoserine(ATM)HMM predict
1417Phosphoserine(CK1)HMM predict
1419Phosphoserine(CK1)HMM predict
1567O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001735
  • Location:chr9 122754436-122852374
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 122862254 122862413 159 9959
CTCF CD4SISSRdata 122862254 122862413 159 9959
ER E2-MCF7GSE14664 122869204 122869290 86 16873
FOXA1 MCF7GSE15244 122853903 122854230 327 1692
Nanog hESGSE18292 122862230 122862450 220 9966
Oct1 HelaGSE14283 122869208 122869296 88 16878
Sox2 hESGSE18292 122862255 122862657 402 10082
hScc1 BcellGSE12603 122862155 122862412 257 9909
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
SRF GMOGSE8489 122746710 122746950 240 7607
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 122783788 122784049 261 0
CTCF CD4SISSRdata 122783788 122784049 261 0
FoxA1 MCF7MACSdata 122774205 122774449 244 0
Myc hESGSE17917 122768254 122768589 335 0
Oct1 H2O2-HelaGSE14283 122803499 122803527 28 0
Oct1 HelaGSE14283 122769796 122769849 53 0
Oct1 HelaGSE14283 122811293 122811326 33 0
Oct1 HelaGSE14283 122850079 122850108 29 0
TAF HelaGSE8489 122783858 122784085 227 0
USF1 HepG2E 122829257 122829445 188 0
hScc1 BcellGSE12603 122783858 122784085 227 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
26985 mRNA CEP1 chr9 120916843 120955529 56 mRNA C5 chr9 120794169 120917006Sense/Antisense (SA) pairs

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