AutismKB 2.0

Annotation Detail for MMRN1


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Basic Information Top
Gene Symbol:MMRN1 ( ECM,EMILIN4,GPIa*,MMRN )
Gene Full Name: multimerin 1
Band: 4q22.1
Quick LinksEntrez ID:22915; OMIM: 601456; Uniprot ID:MMRN1_HUMAN; ENSEMBL ID: ENSG00000138722; HGNC ID: 7178
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
21N-linked (GlcNAc...) (Potential).
97N-linked (GlcNAc...) (Potential).
114N-linked (GlcNAc...).
120N-linked (GlcNAc...).
136N-linked (GlcNAc...).
188Cell attachment site (Potential).
344N-linked (GlcNAc...).
431N-linked (GlcNAc...) (Potential).
507N-linked (GlcNAc...) (Potential).
541N-linked (GlcNAc...) (Potential).
576N-linked (GlcNAc...) (Potential).
618N-linked (GlcNAc...).
680N-linked (GlcNAc...) (Potential).
729N-linked (GlcNAc...).
783N-linked (GlcNAc...) (Potential).
816N-linked (GlcNAc...) (Potential).
828N-linked (GlcNAc...) (Potential).
840N-linked (GlcNAc...) (Potential).
921N-linked (GlcNAc...) (Potential).
933N-linked (GlcNAc...) (Potential).
942N-linked (GlcNAc...).
981N-linked (GlcNAc...) (Potential).
1020N-linked (GlcNAc...).
1075N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
21N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
97N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
114N-linked (GlcNAc...).Swiss-Prot 53.0
120N-linked (GlcNAc...).Swiss-Prot 53.0
136N-linked (GlcNAc...).Swiss-Prot 53.0
344N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
431N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
507N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
541N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
576N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
618N-linked (GlcNAc...).Swiss-Prot 53.0
680N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
729N-linked (GlcNAc...).Swiss-Prot 53.0
783N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
816N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
828N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
840N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
921N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
933N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
942N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
981N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1020N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1075N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
21N-linkedHMM predict
22N-linkedHMM predict
35Phosphoserine(ATM)HMM predict
77O-linkedHMM predict
86O-linkedHMM predict
88O-linkedHMM predict
97N-linkedHMM predict
114N-linkedHMM predict
120N-linkedHMM predict
136N-linkedHMM predict
149Phosphoserine(PKG)HMM predict
183Phosphotyrosine(Syk)HMM predict
189Phosphoserine(PKA)HMM predict
189Phosphoserine(IKK)HMM predict
190O-linkedHMM predict
192Phosphoserine(ATM)HMM predict
253Phosphoserine(PKG)HMM predict
330Phosphotyrosine(Syk)HMM predict
355Phosphothreonine(PKC)HMM predict
417Phosphoserine(CK2)HMM predict
431N-linkedHMM predict
507N-linkedHMM predict
522Phosphoserine(CK1)HMM predict
541N-linkedHMM predict
576N-linkedHMM predict
618N-linkedHMM predict
680N-linkedHMM predict
686N-linkedHMM predict
729N-linkedHMM predict
766Phosphothreonine(PKA)HMM predict
816N-linkedHMM predict
819N-linkedHMM predict
828N-linkedHMM predict
867Phosphoserine(CK1)HMM predict
921N-linkedHMM predict
933N-linkedHMM predict
942N-linkedHMM predict
981N-linkedHMM predict
985S-palmitoylHMM predict
1020N-linkedHMM predict
1038SulfotyrosineHMM predict
1042Phosphotyrosine(INSR)HMM predict
1067S-palmitoylHMM predict
1097Phosphotyrosine(INSR)HMM predict
1109Phosphotyrosine(Abl)HMM predict
1188Phosphothreonine(PKC)HMM predict
1210IsoleucineHMM predict
1215ProlineHMM predict
1227ArginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_007351
  • Location:chr4 91035074-91094800
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Gata2 K562GSE18868 91029408 91029833 425 5454
Oct1 H2O2-HelaGSE14283 91023183 91023210 27 11878
Oct1 HelaGSE14283 91023183 91023212 29 11877
Oct1 HelaGSE14283 91026351 91026395 44 8702
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 91111550 91111773 223 16861
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 91042088 91042290 202 0
CTCF CD4SISSRdata 91042088 91042290 202 0
CTCF HelaGSE12889 91042094 91042311 217 0
CTCF G2GSE9613 91042034 91042247 213 0
CTCF G2GSE9613 91090094 91090312 218 0
FoxA1 MCF7MACSdata 91056238 91056488 250 0
Oct1 H2O2-HelaGSE14283 91042509 91042536 27 0
hScc1 BcellGSE12603 91041935 91042247 312 0
hScc1 CdLSGSE12603 91041871 91042247 376 0
hScc1 G2GSE9613 91042001 91042247 246 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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