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Center for Computational Systems Medicine
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Gene summary

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Gene structure and Gene expression level

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Sex-biased somatic mutation

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DNA methylation with beta values in gene

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Exon skipping events with PSI in TCGA

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RNA A-to-I editing events in TCGA

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Sex-biased TF-Gene network of gene

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Sex-biased RBP-ES network of gene

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Sex-biased CeRNA regulation of gene

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Sex-biased eQTL regulation of gene

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Sex-biased eQTM regulation of gene

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Sex-biased sQTL regulation of gene

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Sex-biased sQTM regulation of gene

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Related disease information of gene

Gene: ENSG00000197614

Summary for MFAP5

check button Gene summary

Gene informationEnsembl ID

ENSG00000197614

Gene symbol

MFAP5

Gene namemicrofibril associated protein 5
HGNC

29673

Entrez ID

8076

Gene typeprotein_coding
SynonymsMFAP5|MAGP2|MP25
UniProtAcc

Q13361


check buttonDrugs associated with this gene(DrugBank).
Gene IDGene SymbolDrug IDDrug NameDrug Type

check buttonCancer therapeutic drugs associated with this gene(NCI).
Gene IDGene NameDrug IDDrug NameDrug TypeCancer

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Structure and expression level for MFAP5

check buttonAS events and RNA A-to-I editing events of the gene in TCGA based on Genvode V22 structure.
∗For more information on exon skipping events please check the ExonskipDB database.
∗For more information on exon skipping events please check the CAeditome database.
UCSC result

check buttonLandscape of gene expressions across multiple cancer types.
gene expression analysis

check buttonDifferentially expressed gene analysis between tumor male and tumor female samples.
Coding NameBase Meanlog2FoldChangelfcSEStatP valueP.adjust ValueCancer Type

check buttonDifferentially expressed gene analysis between tumor male and normal male samples.
DEG result
Coding NameBase Meanlog2FoldChangelfcSEStatP valueP.adjust ValueCancer Type
MFAP57.19e+02-3.26e+008.06e-01-4.04e+005.36e-052.58e-04BLCA
MFAP51.28e+03-2.03e+007.22e-01-2.81e+004.89e-032.17e-02ESCA

check buttonDifferentially expressed gene analysis between tumor female and normal female samples.
DEG result
Coding NameBase Meanlog2FoldChangelfcSEStatP valueP.adjust ValueCancer Type
MFAP53.95e+02-1.03e+003.47e-01-2.96e+003.04e-035.69e-03THCA
MFAP51.58e+031.32e+004.92e-012.68e+007.34e-032.24e-02HNSC
MFAP53.70e+03-1.96e+001.36e-01-1.44e+016.37e-475.84e-46BRCA
MFAP55.59e+02-3.52e+006.68e-01-5.26e+001.41e-071.58e-06READ

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Sex-biased somatic mutation for MFAP5

∗For more information on exon skipping events please check the ExonskipDB database.
Gene IDCancer TypeHugo SymbolMaleFemalepvalorci.upci.lowadjPval

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DNA methylation with beta values for MFAP5

check buttonLandscape of DNA methylation across multiple cancer types.
methylation heatmap

check buttonDifferentially expressed CpG sites between male tumor and female tumor patients.
Cancer TypeCpG SitePositionCpG IslandPosition to Geneave1ave2wilcoxon.wwilcoxon.ppadjdBeta

check buttonDifferentially expressed CpG sites between male tumor and male normal patients.
Cancer TypeCpG SitePositionCpG IslandPosition to Geneave1ave2wilcoxon.wwilcoxon.ppadjdBeta
LUSCcg15815843chr12:8662712CGI:chr12:8697456-8698807UTR,promoter,exon,gene body6.51e-019.34e-01-4.02e+005.76e-055.76e-04-2.83e-01
LUSCcg07708516chr12:8662763CGI:chr12:8697456-8698807UTR,promoter,exon,gene body5.43e-018.35e-01-3.80e+001.47e-048.29e-04-2.92e-01
LUSCcg24229691chr12:8662984CGI:chr12:8697456-8698807promoter4.44e-016.18e-01-3.92e+008.72e-056.61e-04-1.74e-01
LUSCcg18574995chr12:8663038CGI:chr12:8697456-8698807promoter7.58e-019.53e-01-3.99e+006.62e-056.00e-04-1.95e-01

check buttonDifferentially expressed CpG sites between female tumor and female normal patients.
Cancer TypeCpG SitePositionCpG IslandPosition to Geneave1ave2wilcoxon.wwilcoxon.ppadjdBeta
BRCAcg24229691chr12:8662984CGI:chr12:8697456-8698807promoter4.96e-016.11e-01-8.31e+009.66e-174.02e-16-1.15e-01
COADcg13679724chr12:8664037CGI:chr12:8697456-8698807promoter7.80e-019.17e-01-2.56e+001.04e-021.62e-02-1.37e-01
BLCAcg15815843chr12:8662712CGI:chr12:8697456-8698807UTR,promoter,exon,gene body6.86e-018.31e-01-2.07e+003.81e-024.15e-02-1.45e-01
BLCAcg07708516chr12:8662763CGI:chr12:8697456-8698807UTR,promoter,exon,gene body5.87e-017.15e-01-2.05e+004.02e-024.30e-02-1.28e-01
LIHCcg13679724chr12:8664037CGI:chr12:8697456-8698807promoter7.18e-019.17e-01-2.74e+006.12e-039.42e-03-1.99e-01

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Exon skipping events with PSI in TCGA for MFAP5

∗Please access ExonSkipDB for exon skipping annotation.
check buttonLandscape of exon skipping events across multiple cancer types.
AS event heatmap

check buttonDifferentially expressed exon skipping events between male tumor and female tumor patients.
Cancer TypeExon Skippingave.female_Tave.female_Nwilcoxon.wwilcoxon.ppadjdPSI

check buttonDifferentially expressed exon skipping events between male tumor and male normal patients.
Cancer TypeExon Skippingave.female_Tave.female_Nwilcoxon.wwilcoxon.ppadjdPSI

check buttonDifferentially expressed exon skipping events between female tumor and female normal patients.
Cancer TypeExon Skippingave.female_Tave.female_Nwilcoxon.wwilcoxon.ppadjdPSI

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RNA A-to-I editing events in TCGA for MFAP5

∗Please access CAeditome for RNA editing annotation.
check buttonDifferentially expressed RNA editing events between male tumor and female tumor patients.
Cancer TypeTranscriptEditingave.male_Tave.female_Twilcoxon.wwilcoxon.pp_adjdFre

check buttonDifferentially expressed RNA editing events between male tumor and male normal patients.
Cancer TypeTranscriptEditingave.male_Tave.female_Twilcoxon.wwilcoxon.pp_adjdFre

check buttonDifferentially expressed RNA editing events between female tumor and female normal patients.
Cancer TypeTranscriptEditingave.male_Tave.female_Twilcoxon.wwilcoxon.pp_adjdFre

check buttonProtein coding RNA editing(s).
Editing PositionVariant TypeGene SymbolTranscript IDNTchangeAAchange

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Sex-biased TF-Gene network for MFAP5

check buttonTFs related to MFAP5.
∗The female-biased TF-gene edges were identified if Female_Edge_threshold>0.98 and Male_Edge_threshold<=0.98.
∗The male-biased TF-gene edges were identified if Male_Edge_threshold>0.98 and Female_Edge_threshold<=0.98.
TF Gene
Cancer TypeTFTarget GeneMale Edge ScoreMale Edge ThresholdFemale Edge ScoreFemale Edge ThresholdType
UVMAIREMFAP54.61e+009.82e-012.97e+004.99e-03Male-biased
UVMARID5BMFAP54.76e+009.83e-013.24e+006.43e-03Male-biased
UVMATOH7MFAP55.74e+009.86e-014.49e+001.17e-02Male-biased
UVMBATFMFAP54.59e+009.81e-012.99e+005.47e-03Male-biased
UVMBHLHE22MFAP55.56e+009.90e-014.04e+006.68e-03Male-biased
UVMIRF7MFAP55.10e+009.87e-013.60e+006.83e-03Male-biased
UVMMESP2MFAP55.53e+009.85e-014.28e+001.16e-02Male-biased
UVMNEUROD1MFAP54.91e+009.85e-013.41e+006.70e-03Male-biased
UVMNEUROG2MFAP55.77e+009.86e-014.53e+001.20e-02Male-biased
UVMNKX6-3MFAP54.80e+009.84e-013.23e+005.83e-03Male-biased
UVMOLIG1MFAP55.69e+009.89e-014.29e+008.70e-03Male-biased
UVMOLIG3MFAP55.46e+009.87e-014.11e+009.46e-03Male-biased
UVMTBPMFAP54.45e+009.81e-012.42e+002.07e-03Male-biased
UVMZNF334MFAP54.53e+009.85e-011.12e+004.65e-05Male-biased
UVMZNF354BMFAP54.68e+009.86e-012.58e+001.80e-03Male-biased
UVMZNF418MFAP54.41e+009.82e-016.02e-024.25e-06Male-biased

check buttonMFAP5 related gene.
∗Only the gene encode TF might with this result.
∗For more information please check Sex-biased TF-Coding gene network.

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Sex-biased RBP-ES network for MFAP5

check buttonRBPs related to ES in MFAP5.
∗The female-biased RBP-ES edges were identified if Female_Edge_threshold>0.98 and Male_Edge_threshold<=0.98.
∗The male-biased RBP-ES edges were identified if Male_Edge_threshold>0.98 and Female_Edge_threshold<=0.98.
Cancer TypeRBPTarget ESMale Edge ScoreMale Edge ThresholdFemale Edge ScoreFemale Edge ThresholdType

check buttonMFAP5 related ES.
∗Only the gene encode RBP might with this result.
∗For more information please check Sex-biased RBP-ES network in cancer.

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Sex-biased CeRNA regulation of gene

check buttonSex-biased CeRNA regulation of gene.
Gene IDceRNA(lncRNA-miRNA-mRNA)GroupCancer Type
ENSG00000197614PCAT19,hsa-mir-372,MFAP5Female-specific ceRNATCGA-KICH
ENSG00000197614AL024507.2,hsa-mir-433,MFAP5Female-specific ceRNATCGA-KICH

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Sex-biased eQTL regulation of gene

check buttonSex-biased eQTL regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table).
eQTLDescription

check buttonMale-specific eQTL regulation.
SNP IDSNP InfoPosition to GeneEffect ScoreFDRCancer TypeBiased Type
rs116952980chr12:13825813:G:A-0.2601946741958680.00364217878731744READFemale-baised eQTL
rs12298442chr12:5482653:A:G-0.1501279148641160.027684691926712PAADFemale-baised eQTL
rs35934802chr12:5485556:G:A-0.1436581268813740.0389275636368802PAADFemale-baised eQTL
rs35691544chr12:5485827:C:T-0.1436581268813740.0389275636368802PAADFemale-baised eQTL
rs11062072chr12:234581:G:A-0.1495222551699490.00398257419109907LUSCFemale-baised eQTL
rs12830750chr12:233511:G:A-0.149429006070190.00398257419109907LUSCFemale-baised eQTL
rs11062071chr12:234580:C:T-0.149429006070190.00398257419109907LUSCFemale-baised eQTL
rs7969059chr12:236035:T:C-0.149429006070190.00398257419109907LUSCFemale-baised eQTL
rs11062085chr12:236434:C:T-0.149429006070190.00398257419109907LUSCFemale-baised eQTL
rs12580917chr12:237060:A:C-0.149429006070190.00398257419109907LUSCFemale-baised eQTL
rs12366824chr12:251043:C:A-0.1490436206092920.00418270083705085LUSCFemale-baised eQTL
rs10848639chr12:254191:C:A-0.1490436206092920.00418270083705085LUSCFemale-baised eQTL
rs11613826chr12:242937:G:A-0.1491126828564830.00419586274002383LUSCFemale-baised eQTL
rs11062125chr12:244883:G:C-0.1491126828564830.00419586274002383LUSCFemale-baised eQTL
rs11062126chr12:244947:G:A-0.1491126828564830.00419586274002383LUSCFemale-baised eQTL
rs35311301chr12:245242:C:T-0.1491126828564830.00419586274002383LUSCFemale-baised eQTL
rs12826998chr12:248626:C:A-0.1491126828564830.00419586274002383LUSCFemale-baised eQTL
rs12825287chr12:249635:T:C-0.1491126828564830.00419586274002383LUSCFemale-baised eQTL
rs10848638chr12:254135:C:A-0.1491126828564830.00419586274002383LUSCFemale-baised eQTL
rs12579445chr12:237069:G:A-0.1490909846192280.00420440834036156LUSCFemale-baised eQTL
rs11062163chr12:255313:C:T-0.1284258354560550.0231848122880657LUSCFemale-baised eQTL
rs78082571chr12:4953984:A:G-0.1205012211262020.0453733963765424LUSCFemale-baised eQTL
rs4766316chr12:4954614:T:A-0.1205012211262020.0453733963765424LUSCFemale-baised eQTL
rs10840702chr12:17394822:G:T-0.123288695173580.0304873511176535BLCAFemale-baised eQTL
rs12582159chr12:13378308:C:T-0.05584326818389590.0226119610193742LUADFemale-baised eQTL
rs10774279chr12:4879203:A:G--0.08741482763741480.033019908011164LUADFemale-baised eQTL
rs6489581chr12:4880461:C:A--0.08733653943742530.0333736102958595LUADFemale-baised eQTL
rs7138770chr12:14398948:C:T-0.07121982946943840.0401336696278939LUADFemale-baised eQTL
rs11054298chr12:11445413:T:C-0.07479183265760110.0437701713145081COADFemale-baised eQTL

check buttonFemale-specific eQTL regulation.
SNP IDSNP InfoPosition to GeneEffect ScoreFDRCancer TypeBiased Type
rs79731558chr12:10301435:A:G-0.2291313474271750.0165791456140103READMale-baised eQTL
rs76934531chr12:10301436:T:C-0.2291313474271750.0165791456140103READMale-baised eQTL
rs34790670chr12:10298103:T:C-0.2175914950381530.0266445605198355READMale-baised eQTL
rs35868193chr12:10300131:T:G-0.2175914950381530.0266445605198355READMale-baised eQTL
rs79513651chr12:10301366:C:T-0.2175914950381530.0266445605198355READMale-baised eQTL
rs56410132chr12:15351856:C:T-0.09318555326829550.00535724191306187HNSCMale-baised eQTL
rs16910798chr12:15380636:T:C-0.09339535288271870.00597375683808095HNSCMale-baised eQTL
rs74720565chr12:15332212:G:A-0.0877687522532720.00794182027382687HNSCMale-baised eQTL
rs12310930chr12:1329595:A:G-0.1892734220755820.00534875167166523THCAMale-baised eQTL
rs2369282chr12:519557:T:C--0.1386515847410460.0108772618743835THCAMale-baised eQTL
rs12823681chr12:18603076:G:A-0.1193037822050950.0158694485742165THCAMale-baised eQTL
rs12828182chr12:18608949:G:A-0.1193037822050950.0158694485742165THCAMale-baised eQTL
rs2277328chr12:18609516:A:C-0.1193037822050950.0158694485742165THCAMale-baised eQTL
rs12809738chr12:18609179:G:A-0.1141410316673910.0219493808010993THCAMale-baised eQTL
rs12826212chr12:18599514:G:A-0.1175772521892140.0247086639604287THCAMale-baised eQTL
rs35801168chr12:18625377:G:A-0.1398761999306790.0340309597986626THCAMale-baised eQTL
rs2532567chr12:4062144:G:C-0.1750967730232810.00967460334614148SARCMale-baised eQTL
rs2540141chr12:4062416:C:T-0.1750967730232810.00967460334614148SARCMale-baised eQTL
rs11063636chr12:5367396:A:G--0.03798255945575290.00784851938151881LUSCMale-baised eQTL
rs1124463chr12:5364266:G:A--0.03812645529581780.00925611747095137LUSCMale-baised eQTL
rs10774318chr12:5351541:T:G--0.03808924366028160.00950814596354206LUSCMale-baised eQTL
rs10735048chr12:5344245:C:T--0.03794353091132410.00962012462222081LUSCMale-baised eQTL
rs7132103chr12:5347810:C:T--0.03752524651671010.0115485950567411LUSCMale-baised eQTL
rs1124462chr12:5364139:C:A--0.03596485408592250.0183635097633406LUSCMale-baised eQTL
rs7307314chr12:5342965:T:C--0.03632645022892920.0202039227843883LUSCMale-baised eQTL
rs6489642chr12:5579034:G:A-0.03739171270615160.0266937509041224LUSCMale-baised eQTL
rs10774324chr12:5367231:T:C--0.03455498113440150.0280713559716788LUSCMale-baised eQTL
rs10774325chr12:5367739:C:T--0.03343626645428640.03124852981699LUSCMale-baised eQTL
rs7305796chr12:10140260:A:G-0.07428217999445690.00360603300740469BLCAMale-baised eQTL
rs11053630chr12:10141759:A:G-0.07428217999445690.00360603300740469BLCAMale-baised eQTL
rs12580875chr12:10148449:G:T--0.074405463116190.00581565168990959BLCAMale-baised eQTL
rs12316150chr12:10159692:A:T-0.07019844304927490.0162626914470303BLCAMale-baised eQTL
rs12309571chr12:10145410:T:C-0.06846545500801580.0179577093491482BLCAMale-baised eQTL
rs11053633chr12:10145674:A:T-0.06846545500801580.0179577093491482BLCAMale-baised eQTL
rs112901702chr12:10150979:T:A-0.06846545500801580.0179577093491482BLCAMale-baised eQTL
rs111532415chr12:10151277:G:A-0.06846545500801580.0179577093491482BLCAMale-baised eQTL
rs112843795chr12:10152217:G:A-0.06846545500801580.0179577093491482BLCAMale-baised eQTL
rs11053638chr12:10153242:G:C-0.06846545500801580.0179577093491482BLCAMale-baised eQTL
rs11053639chr12:10153459:A:G-0.068407450252920.0180604635262902BLCAMale-baised eQTL
rs11053640chr12:10153600:C:T-0.068407450252920.0180604635262902BLCAMale-baised eQTL
rs148379335chr12:10155229:T:C-0.06877931340911350.0182071214566448BLCAMale-baised eQTL
rs1050289chr12:10158567:C:T-0.06877931340911350.0182071214566448BLCAMale-baised eQTL
rs12305247chr12:10148755:A:G-0.06830398599368510.0185941406201709BLCAMale-baised eQTL
rs12300193chr12:10149574:C:T-0.06830398599368510.0185941406201709BLCAMale-baised eQTL
rs76675771chr12:10150220:T:C-0.06830398599368510.0185941406201709BLCAMale-baised eQTL
rs58564240chr12:10150963:T:C-0.06830398599368510.0185941406201709BLCAMale-baised eQTL
rs79161256chr12:10151903:C:T-0.06830398599368510.0185941406201709BLCAMale-baised eQTL
rs11053642chr12:10153692:T:C-0.06824109170468680.0187153880266484BLCAMale-baised eQTL
rs112673515chr12:10139720:C:T-0.06826433760563070.0188160434262079BLCAMale-baised eQTL
rs7977222chr12:10140919:T:C-0.06826433760563070.0188160434262079BLCAMale-baised eQTL
rs7969469chr12:4963344:G:A-0.06104414235415780.0197314506099048BLCAMale-baised eQTL
rs34291188chr12:10156982:A:G-0.06695111999903170.0287697812687774BLCAMale-baised eQTL
rs7970341chr12:18229439:G:A--0.04077138525994560.029316411929261BLCAMale-baised eQTL
rs7302045chr12:4971096:A:G-0.05800173060037730.0297123777985856BLCAMale-baised eQTL
rs10849182chr12:4965172:G:A-0.05499797785956680.0381274079272545BLCAMale-baised eQTL
rs7959096chr12:2340601:C:T-0.05826184018063190.0392731506377457BLCAMale-baised eQTL
rs6489364chr12:2340826:G:A-0.05826184018063190.0392731506377457BLCAMale-baised eQTL
rs7957028chr12:18229494:T:C--0.03921365236718060.0473045646984223BLCAMale-baised eQTL
rs11837266chr12:3237355:A:G-0.03797155850855720.0150762467671027COADMale-baised eQTL
rs12302126chr12:8525050:T:C-0.06257564872060030.0269028326672565COADMale-baised eQTL
rs12306856chr12:8525185:G:A-0.06257564872060030.0269028326672565COADMale-baised eQTL
rs151143801chr12:17701092:G:A-0.05370160120392720.0287782714360285COADMale-baised eQTL
rs113181367chr12:10178088:G:T-0.06205939249257870.0317557225746332COADMale-baised eQTL
rs10770255chr12:17793770:A:T-0.0530910514969290.0342478535554544COADMale-baised eQTL
rs11043601chr12:17712151:C:T-0.05214074497167670.0345228120067912COADMale-baised eQTL
rs7963488chr12:3238106:C:T-0.0333511000360070.0430863614266873COADMale-baised eQTL
rs35688880chr12:10171832:G:T-0.05777176399779430.0478452376141582COADMale-baised eQTL

check buttonOpposite sex-biased eQTL regulation.
SNP IDSNP InfoPosition to GeneMale EffectMale FDRFemale EffectFemale FDRSex-biased Gene in CancerCancer Type

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Sex-biased eQTM regulation of gene

check buttonSex-biased eQTM regulation of gene (The figures only show the pairs with FDR<1e-5. For more information please check the below table).
eQTMDescription
eQTM boxplot analysisGene ID: ENSG00000197614
CpG Site: cg18574995
Position to Gene: promoter
Male Effect: -0.213057242260439
Female Effect: -
eQTM boxplot analysisGene ID: ENSG00000197614
CpG Site: cg07708516
Position to Gene: gene,exon,promoter,UTR
Male Effect: -0.487946981835077
Female Effect: -
eQTM boxplot analysisGene ID: ENSG00000197614
CpG Site: cg18574995
Position to Gene: promoter
Male Effect: -0.154706364247981
Female Effect: -

check buttonMale-specific eQTM regulation.
CpG SiteCpG PostionPosition to GeneEffect ScoreFDRCor.rCor.PvalueCancer Type
cg18574995chr12:8663038promoter-0.2130572422604391.2162425637582e-06-0.384502122129659842.859236751891601e-09LUAD
cg07708516chr12:8662763gene,exon,promoter,UTR-0.4879469818350772.00546444260712e-59-0.79184766214469094.6215693387401093e-64SKCM
cg18574995chr12:8663038promoter-0.1547063642479811.03511867504929e-11-0.43343486965369098.380421579663535e-15SKCM

check buttonFemale-specific eQTM regulation.
CpG SiteCpG PostionPosition to GeneEffect ScoreFDRCor.rCor.PvalueCancer Type

check buttonOpposite sex-biased eQTM regulation.
CpG SiteCpG PostionCpG IslandPosition to GeneMale EffectMale FDRFemale EffectFemale FDRMale CorMale P-valueFemale CorFemale P-valueSex-biased Coding GeneCancer Type

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Sex-biased sQTL regulation of gene

check buttonSex-biased sQTL regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table).
sQTLDescription

check buttonMale-specific sQTL regulation.
ES IDSkipped ExonORF AnnoSNP IDSNP InfoSNP Position to ESEffect ScoreFDRCancer TypeBiased Type

check buttonFemale-specific sQTL regulation.
ES IDSkipped ExonORF AnnoSNP IDSNP InfoSNP Position to ESEffect ScoreFDRCancer TypeBiased Type

check buttonOpposite sex-biased sQTL regulation.
ES IDSkipped ExonORF AnnoSNP IDSNP InfoSNP Position to ESMale EffectMale FDRFemale EffectFemale FDRCancer Type

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Sex-biased sQTM regulation of gene

check buttonSex-biased sQTM regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table).
sQTMDescription

check buttonMale-specific sQTM regulation.
EX IDSkipped ExonCPG SiteCPG PositionPosition to EX EventsEffect ScoreFDRCor.rCor.PvalueORF_annoCancer Type

check buttonFemale-specific sQTM regulation.
EX IDSkipped ExonCPG SiteCPG PositionPosition to EX EventsEffect ScoreFDRCor.rCor.PvalueORF_annoCancer Type

check buttonOpposite sex-biased sQTM regulation.
EX IDEX InfoSkipped ExonCPG SiteCPG PositionCPG IslandPosition to EX EventsMale EffectMale FDRFemale EffectFemale FDRMale CorrelationMale P-valueFemale CorrelationFemale P-valueORF_annoCancer Type

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Related disease information of MFAP5

check buttonDiseases associated with this gene (DisGeNET).
Gene IDGene SymbolDisease IDDisease NameNumber of PMIDSource
ENSG00000197614MFAP5C4015368AORTIC ANEURYSM, FAMILIAL THORACIC 91CTD_human