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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for MAZ

check button Gene summary
Gene informationGene symbol

MAZ

Gene ID

4150

Gene nameMYC associated zinc finger protein
SynonymsPUR1|Pur-1|SAF-1|SAF-2|SAF-3|ZF87|ZNF801|Zif87
Cytomap

16p11.2

Type of geneprotein-coding
Descriptionmyc-associated zinc finger proteinMAZIpurine-binding transcription factorserum amyloid A activating factor 1serum amyloid A activating factor 2transcription factor Zif87zinc finger protein 801zinc-finger protein, 87 kilodaltons
Modification date20180519
UniProtAcc

P56270

ContextPubMed: MAZ [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
MAZ

GO:0006367

transcription initiation from RNA polymerase II promoter

1502157

MAZ

GO:0006369

termination of RNA polymerase II transcription

1502157


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Exon skipping events across known transcript of Ensembl for MAZ from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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Gene isoform structures and expression levels for MAZ

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for MAZ

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1354111629818190:29818214:29818298:29819149:29819550:2981961429818298:29819149ENSG00000103495.9ENST00000322945.6,ENST00000545521.1,ENST00000219782.6
exon_skip_1354131629817870:29818214:29819550:29819614:29819890:2982006229819550:29819614ENSG00000103495.9ENST00000561855.1
exon_skip_1354181629819999:29820062:29820860:29821085:29821397:2982140829820860:29821085ENSG00000103495.9ENST00000219782.6

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for MAZ

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1354111629818190:29818214:29818298:29819149:29819550:2981961429818298:29819149ENSG00000103495.9ENST00000545521.1,ENST00000322945.6,ENST00000219782.6
exon_skip_1354131629817870:29818214:29819550:29819614:29819890:2982006229819550:29819614ENSG00000103495.9ENST00000561855.1
exon_skip_1354181629819999:29820062:29820860:29821085:29821397:2982140829820860:29821085ENSG00000103495.9ENST00000219782.6

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for MAZ

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003229452981829829819149Frame-shift

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003229452981829829819149Frame-shift

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Infer the effects of exon skipping event on protein functional features for MAZ

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Lost protein functional features of individual exon skipping events in TCGA.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature


check button Lost protein functional features of individual exon skipping events in GTEx.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature


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SNVs in the skipped exons for MAZ

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
MAZ_KIRP_exon_skip_135418_psi_boxplot.png
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MAZ_LIHC_exon_skip_135418_psi_boxplot.png
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MAZ_LUSC_exon_skip_135411_psi_boxplot.png
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MAZ_PRAD_exon_skip_135418_psi_boxplot.png
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MAZ_STAD_exon_skip_135418_psi_boxplot.png
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check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-ZP-A9CV-01exon_skip_135411
29818299298191492981911129819111Frame_Shift_DelG-p.K335fs
LIHCTCGA-DD-A3A0-01exon_skip_135418
29820861298210852982090829820908Frame_Shift_DelG-p.G443fs
LIHCTCGA-DD-A1EG-01exon_skip_135418
29820861298210852982091829820918Frame_Shift_DelC-p.A446fs
PRADTCGA-HC-7077-01exon_skip_135418
29820861298210852982100629821006Frame_Shift_DelG-p.L475fs
STADTCGA-MX-A5UJ-01exon_skip_135418
29820861298210852982101729821017Frame_Shift_DelC-p.A479fs
LUSCTCGA-66-2742-01exon_skip_135411
29818299298191492981899229818992Nonsense_MutationCTp.R296*
BLCATCGA-2F-A9KT-01exon_skip_135411
29818299298191492981902829819028Nonsense_MutationCTp.Q308*
LUSCTCGA-18-3419-01exon_skip_135411
29818299298191492981913629819136Nonsense_MutationATp.K344*
KIRPTCGA-2Z-A9JE-01exon_skip_135418
29820861298210852982099529820995Nonsense_MutationCTp.Q472X

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
MAZ_29819999_29820062_29820860_29821085_29821397_29821408_TCGA-2Z-A9JE-01Sample: TCGA-2Z-A9JE-01
Cancer type: KIRP
ESID: exon_skip_135418
Skipped exon start: 29820861
Skipped exon end: 29821085
Mutation start: 29820995
Mutation end: 29820995
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: T
AAchange: p.Q472X
exon_skip_135418_KIRP_TCGA-2Z-A9JE-01.png
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exon_skip_5861_KIRP_TCGA-2Z-A9JE-01.png
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MAZ_29819999_29820062_29820860_29821085_29821397_29821408_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_135418
Skipped exon start: 29820861
Skipped exon end: 29821085
Mutation start: 29820918
Mutation end: 29820918
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.A446fs
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MAZ_29819999_29820062_29820860_29821085_29821397_29821408_TCGA-HC-7077-01Sample: TCGA-HC-7077-01
Cancer type: PRAD
ESID: exon_skip_135418
Skipped exon start: 29820861
Skipped exon end: 29821085
Mutation start: 29821006
Mutation end: 29821006
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.L475fs
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MAZ_29819999_29820062_29820860_29821085_29821397_29821408_TCGA-MX-A5UJ-01Sample: TCGA-MX-A5UJ-01
Cancer type: STAD
ESID: exon_skip_135418
Skipped exon start: 29820861
Skipped exon end: 29821085
Mutation start: 29821017
Mutation end: 29821017
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.A479fs
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MAZ_29818190_29818214_29818298_29819149_29819550_29819614_TCGA-18-3419-01Sample: TCGA-18-3419-01
Cancer type: LUSC
ESID: exon_skip_135411
Skipped exon start: 29818299
Skipped exon end: 29819149
Mutation start: 29819136
Mutation end: 29819136
Mutation type: Nonsense_Mutation
Reference seq: A
Mutation seq: T
AAchange: p.K344*
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check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LXF289_LUNG29818299298191492981904729819048Frame_Shift_Ins-GCGCTTCp.-315fs
TE15_OESOPHAGUS29818299298191492981840129818418In_Frame_DelGCTGCGGCCGCTGCCGCC-p.AAAAAA99del
SIMA_AUTONOMIC_GANGLIA29818299298191492981833229818332Missense_MutationCTp.P76S
HS698T_FIBROBLAST29818299298191492981833329818333Missense_MutationCAp.P76Q
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29818299298191492981835829818358Missense_MutationCAp.D84E
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29818299298191492981847529818475Missense_MutationCGp.D123E
D283MED_CENTRAL_NERVOUS_SYSTEM29818299298191492981854829818548Missense_MutationGAp.A148T
UACC893_BREAST29818299298191492981854929818549Missense_MutationCTp.A148V
PACADD137_PANCREAS29818299298191492981858729818587Missense_MutationGAp.A161T
NCIH810_LUNG29818299298191492981859629818596Missense_MutationGTp.V164F
HEC108_ENDOMETRIUM29818299298191492981860329818603Missense_MutationCTp.A166V
RH28_SOFT_TISSUE29818299298191492981863629818636Missense_MutationCTp.A177V
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29818299298191492981873729818737Missense_MutationATp.I211F
HCT15_LARGE_INTESTINE29818299298191492981875429818754Missense_MutationGTp.K216N
HEC1A_ENDOMETRIUM29818299298191492981876729818767Missense_MutationCAp.P221T
HMY1_SKIN29818299298191492981877129818771Missense_MutationCTp.S222L
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29818299298191492981880129818801Missense_MutationCTp.P232L
BT474_BREAST29818299298191492981887529818875Missense_MutationGAp.A257T
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29818299298191492981888729818887Missense_MutationGTp.A261S
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE29818299298191492981897229818972Missense_MutationGAp.R289H
NCIH1105_LUNG29818299298191492981899629818996Missense_MutationAGp.H297R
D247MG_CENTRAL_NERVOUS_SYSTEM29818299298191492981899629818996Missense_MutationATp.H297L
KMRC1_KIDNEY29818299298191492981903729819037Missense_MutationGAp.V311M
TGW_AUTONOMIC_GANGLIA29818299298191492981908529819085Missense_MutationCTp.R327C
A431_SKIN29818299298191492981852829818528Nonsense_MutationCAp.S141*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAZ

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAZ


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAZ


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RelatedDrugs for MAZ

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MAZ

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
MAZC0019693HIV Infections1CTD_human