AutismKB 2.0

Annotation Detail for MATN1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MATN1 ( CMP,CRTM )
Gene Full Name: matrilin 1, cartilage matrix protein
Band: 1p35.2
Quick LinksEntrez ID:4146; OMIM: 115437; Uniprot ID:MATN1_HUMAN; ENSEMBL ID: ENSG00000162510; HGNC ID: 6907
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
76N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
76N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
23Phosphoserine(MAPK)HMM predict
76N-linkedHMM predict
88Phosphothreonine(PKC)HMM predict
142Phosphoserine(PKB)HMM predict
142Phosphoserine(IKK)HMM predict
142Phosphoserine(ATM)HMM predict
171Phosphoserine(PKG)HMM predict
202SulfotyrosineHMM predict
240Phosphoserine(CK1)HMM predict
241Phosphoserine(MAPK)HMM predict
321Phosphoserine(CDC2)HMM predict
322Phosphoserine(ATM)HMM predict
388Phosphoserine(ATM)HMM predict
391Phosphotyrosine(INSR)HMM predict
391SulfotyrosineHMM predict
488LeucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002379
  • Location:chr1 30958584-30969473
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 30973162 30973779 617 3997
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 30953526 30953808 282 4918
CTCF CD4SISSRdata 30953526 30953808 282 4918
CTCF G2GSE9613 30943225 30944080 855 14932
CTCF G2GSE9613 30945881 30946093 212 12598
CTCF G2GSE9613 30947048 30947176 128 11473
CTCF G2GSE9613 30950694 30951004 310 7736
CTCF G2GSE9613 30952606 30952906 300 5829
CTCF G2GSE9613 30953440 30953772 332 4979
Myc K562GSE19551 30946450 30946810 360 11955
Oct1 H2O2-HelaGSE14283 30952328 30952381 53 6230
Oct1 HelaGSE14283 30952328 30952381 53 6230
P300 T0-glioblastomaGSE21026 30946319 30946913 594 11969
P300 T30-glioblastomaGSE21026 30946333 30947050 717 11893
RARA MCF7GSE15244 30945951 30946797 846 12211
Rb GrowingGSE19898 30944111 30944321 210 14369
Rb GrowingGSE19898 30953699 30953879 180 4796
TFAP2C MCF7GSE21234 30946181 30946855 674 12067
hScc1 BcellGSE12603 30947755 30948264 509 10575
hScc1 BcellGSE12603 30952349 30952979 630 5921
hScc1 BcellGSE12603 30953365 30953772 407 5016
hScc1 BcellGSE12603 30954188 30954501 313 4240
hScc1 CdLSGSE12603 30953223 30953772 549 5087
hScc1 G2GSE9613 30953365 30953772 407 5016
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 30964687 30964913 226 0
CTCF CD4SISSRdata 30964687 30964913 226 0
CTCF HelaGSE12889 30964607 30965091 484 0
CTCF G2GSE9613 30960433 30960806 373 0
CTCF G2GSE9613 30964166 30965202 1036 0
Oct1 HelaGSE14283 30962870 30962899 29 0
P300 T0-glioblastomaGSE21026 30964126 30964674 548 0
PHF8 HeLaGSE20725 30964042 30964929 887 0
RNAII Tamoxifen-MCF7GSE14664 30961571 30961663 92 0
hScc1 BcellGSE12603 30963432 30963775 343 0
hScc1 BcellGSE12603 30964166 30965727 1561 0
hScc1 BcellGSE12603 30969261 30969460 199 0
hScc1 CdLSGSE12603 30964166 30965764 1598 0
hScc1 G2GSE9613 30964166 30966213 2047 0
p130 QuiescentGSE19898 30964145 30964326 181 0
p130 SenescentGSE19898 30964001 30964883 882 0
p130 shRbQuiescentGSE19898 30964051 30965035 984 0
p130 shRbSenescentGSE19898 30964180 30964875 695 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
501 mRNA MATN1 chr1 30865274 30866999 583 mRNA MATN1 chr1 30855088 30865980Sense/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