AutismKB 2.0

Annotation Detail for MBNL1


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Basic Information Top
Gene Symbol:MBNL1 ( DKFZp686P06174,EXP,EXP35,EXP40,EXP42,KIAA0428,MBNL )
Gene Full Name: muscleblind-like (Drosophila)
Band: 3q25.1-q25.2
Quick LinksEntrez ID:4154; OMIM: 606516; Uniprot ID:MBNL1_HUMAN; ENSEMBL ID: ENSG00000152601; HGNC ID: 6923
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
6Phosphothreonine(MAPK)HMM predict
6Phosphothreonine(CDC2)HMM predict
68Phosphotyrosine(Syk)HMM predict
68Phosphotyrosine(Jak)HMM predict
123Phosphoserine(IKK)HMM predict
141Phosphoserine(MAPK)HMM predict
270Phosphothreonine(PKC)HMM predict
272O-linkedHMM predict
346Phosphothreonine(MAPK)HMM predict
349O-linkedHMM predict
351O-linkedHMM predict
351O-linkedHMM predict
351Phosphoserine(IKK)HMM predict
351O-linkedHMM predict
354O-linkedHMM predict
356Phosphoserine(IKK)HMM predict
358O-linkedHMM predict
359O-linkedHMM predict
359O-linkedHMM predict
365O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_021038
  • Location:chr3 153468518-153666257
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 153458538 153459765 1227 9367
FOXA1 MCF7GSE15244 153458966 153459290 324 9391
H3K4me2 HCT116GSE10453 153467259 153468633 1374 573
H3K4me3 colorectalcancer 153467804 153468670 866 282
Oct1 HelaGSE14283 153465573 153465604 31 2930
P300 T30-glioblastomaGSE21026 153458461 153459944 1483 9316
RARA MCF7GSE15244 153458930 153459359 429 9374
RARG MCF7GSE15244 153458930 153459250 320 9429
RARG MCF7GSE15244 153467360 153468925 1565 376
p63 keratinocytesGSE17611 153458795 153459560 765 9341
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 153468925 153469347 422 0
CTCF G2GSE9613 153469632 153469937 305 0
FOXA1 MCF7GSE15244 153498863 153499528 665 0
Fos K562GSE19551 153499189 153499936 747 0
H3K4me2 HCT116GSE10453 153498805 153499492 687 0
H3K4me3 colorectalcancer 153470291 153471231 940 0
H3ac HepG2E 153469725 153471298 1573 0
H3ac HepG2E 153498805 153499662 857 0
NRSF mAbJurkat 153496058 153497704 1646 0
Oct1 H2O2-HelaGSE14283 153478199 153478227 28 0
Pol2 GM12878GSE19551 153468817 153470339 1522 0
RARA MCF7GSE15244 153498770 153500333 1563 0
RARG MCF7GSE15244 153498841 153499630 789 0
TAF k562GSE8489 153470046 153472261 2215 0
USF2 HepG2E 153498863 153499662 799 0
hScc1 BcellGSE12603 153468854 153470150 1296 0
hScc1 CdLSGSE12603 153468854 153470964 2110 0
hScc1 G2GSE9613 153469632 153470010 378 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
1245 Unknown pSILAC miR-30 MBNL1 down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000152601 n_a n_a n_a "epithelium, lymphoblast, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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
18864 mRNA MBNL1 chr3 153468526 153666266 369 EST MBNL1 chr3 153468526 153468895Sense/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