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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 FLAD1

check button Gene summary
Gene informationGene symbol

FLAD1

Gene ID

80308

Gene nameflavin adenine dinucleotide synthetase 1
SynonymsFAD1|FADS|LSMFLAD|PP591
Cytomap

1q21.3

Type of geneprotein-coding
DescriptionFAD synthaseFAD pyrophosphorylaseFAD-synthetaseFMN adenylyltransferaseFad1, flavin adenine dinucleotide synthetase, homolog
Modification date20180523
UniProtAcc

Q8NFF5

ContextPubMed: FLAD1 [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

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Exon skipping events across known transcript of Ensembl for FLAD1 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 FLAD1

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 FLAD1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_109841154955813:154955873:154956317:154956542:154959941:154960076154956317:154956542ENSG00000160688.14ENST00000368431.3
exon_skip_109861154955842:154955873:154956317:154956542:154960580:154960643154956317:154956542ENSG00000160688.14ENST00000368432.1,ENST00000315144.10
exon_skip_110061154955906:154956109:154956317:154956542:154960580:154960909154956317:154956542ENSG00000160688.14ENST00000487371.1
exon_skip_110111154956317:154956542:154960580:154961325:154962035:154962183154960580:154961325ENSG00000160688.14ENST00000368433.1,ENST00000368432.1,ENST00000315144.10,ENST00000292180.3
exon_skip_110291154961252:154961325:154962035:154962183:154962634:154962733154962035:154962183ENSG00000160688.14ENST00000368433.1,ENST00000368432.1,ENST00000315144.10,ENST00000292180.3,ENST00000368428.1
exon_skip_110341154961060:154961325:154962634:154962733:154965040:154965149154962634:154962733ENSG00000160688.14ENST00000295530.2,ENST00000405236.2
exon_skip_110351154961060:154961325:154962634:154962733:154965188:154965262154962634:154962733ENSG00000160688.14ENST00000489992.1
exon_skip_110451154962688:154962733:154962814:154963004:154965040:154965149154962814:154963004ENSG00000160688.14ENST00000477609.1
exon_skip_110471154962688:154962733:154962814:154963004:154965188:154965262154962814:154963004ENSG00000160688.14ENST00000368432.1,ENST00000315144.10,ENST00000292180.3

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

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Exon skipping events with PSIs in GTEx for FLAD1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_109841154955813:154955873:154956317:154956542:154959941:154960076154956317:154956542ENSG00000160688.14ENST00000368431.3
exon_skip_109861154955842:154955873:154956317:154956542:154960580:154960643154956317:154956542ENSG00000160688.14ENST00000315144.10,ENST00000368432.1
exon_skip_110061154955906:154956109:154956317:154956542:154960580:154960909154956317:154956542ENSG00000160688.14ENST00000487371.1
exon_skip_110111154956317:154956542:154960580:154961325:154962035:154962183154960580:154961325ENSG00000160688.14ENST00000368433.1,ENST00000315144.10,ENST00000368432.1,ENST00000292180.3
exon_skip_110291154961252:154961325:154962035:154962183:154962634:154962733154962035:154962183ENSG00000160688.14ENST00000368433.1,ENST00000315144.10,ENST00000368432.1,ENST00000292180.3,ENST00000368428.1
exon_skip_110341154961060:154961325:154962634:154962733:154965040:154965149154962634:154962733ENSG00000160688.14ENST00000405236.2,ENST00000295530.2
exon_skip_110351154961060:154961325:154962634:154962733:154965188:154965262154962634:154962733ENSG00000160688.14ENST00000489992.1
exon_skip_110451154962688:154962733:154962814:154963004:154965040:154965149154962814:154963004ENSG00000160688.14ENST00000477609.1
exon_skip_110471154962688:154962733:154962814:154963004:154965188:154965262154962814:154963004ENSG00000160688.14ENST00000315144.10,ENST00000368432.1,ENST00000292180.3

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 FLAD1

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
ENST00000292180154960580154961325Frame-shift
ENST00000292180154962035154962183Frame-shift
ENST00000292180154962814154963004Frame-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
ENST00000292180154960580154961325Frame-shift
ENST00000292180154962035154962183Frame-shift
ENST00000292180154962814154963004Frame-shift

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Infer the effects of exon skipping event on protein functional features for FLAD1

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 FLAD1

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.
FLAD1_HNSC_exon_skip_11029_psi_boxplot.png
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FLAD1_LIHC_exon_skip_11029_psi_boxplot.png
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FLAD1_SKCM_exon_skip_11029_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-DD-A1EG-01exon_skip_11006
exon_skip_10984
exon_skip_10986
154956318154956542154956356154956356Frame_Shift_DelC-p.G62fs
LIHCTCGA-DD-A1EG-01exon_skip_11011
154960581154961325154961089154961089Frame_Shift_DelC-p.A294fs
HNSCTCGA-CR-7390-01exon_skip_11029
154962036154962183154962050154962050Frame_Shift_DelA-p.K378fs
HNSCTCGA-CR-7390-01exon_skip_11029
154962036154962183154962050154962050Frame_Shift_DelA-p.K379fs
SKCMTCGA-FR-A728-01exon_skip_11029
154962036154962183154962050154962050Frame_Shift_DelA-p.K379fs
LIHCTCGA-DD-A39Y-01exon_skip_11029
154962036154962183154962131154962131Frame_Shift_DelG-p.G406fs
LIHCTCGA-G3-A3CJ-01exon_skip_11047
exon_skip_11045
154962815154963004154962859154962859Frame_Shift_DelC-p.A470fs
SARCTCGA-DX-A6B8-01exon_skip_11006
exon_skip_10984
exon_skip_10986
154956318154956542154956441154956442Frame_Shift_Ins-Tp.G91fs
SARCTCGA-DX-A6B8-01exon_skip_11006
exon_skip_10984
exon_skip_10986
154956318154956542154956441154956442Frame_Shift_Ins-Tp.R91fs
BLCATCGA-S5-A6DX-01exon_skip_11006
exon_skip_10984
exon_skip_10986
154956318154956542154956531154956531Nonsense_MutationGTp.E121*
SKCMTCGA-FW-A3R5-06exon_skip_11011
154960581154961325154960590154960590Nonsense_MutationCTp.Q128*
SKCMTCGA-FW-A3R5-06exon_skip_11011
154960581154961325154960590154960590Nonsense_MutationCTp.Q128X
CESCTCGA-IR-A3LH-01exon_skip_11011
154960581154961325154961004154961004Nonsense_MutationGTp.E266*
BRCATCGA-BH-A1F8-01exon_skip_11011
154960581154961325154961309154961309Nonsense_MutationCGp.Y367*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
FLAD1_154961252_154961325_154962035_154962183_154962634_154962733_TCGA-CR-7390-01Sample: TCGA-CR-7390-01
Cancer type: HNSC
ESID: exon_skip_11029
Skipped exon start: 154962036
Skipped exon end: 154962183
Mutation start: 154962050
Mutation end: 154962050
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.K379fs
FLAD1_154961252_154961325_154962035_154962183_154962634_154962733_TCGA-CR-7390-01Sample: TCGA-CR-7390-01
Cancer type: HNSC
ESID: exon_skip_11029
Skipped exon start: 154962036
Skipped exon end: 154962183
Mutation start: 154962050
Mutation end: 154962050
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.K378fs
exon_skip_11029_HNSC_TCGA-CR-7390-01.png
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exon_skip_14564_HNSC_TCGA-CR-7390-01.png
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exon_skip_434739_HNSC_TCGA-CR-7390-01.png
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FLAD1_154961252_154961325_154962035_154962183_154962634_154962733_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_11029
Skipped exon start: 154962036
Skipped exon end: 154962183
Mutation start: 154962131
Mutation end: 154962131
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.G406fs
exon_skip_105023_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_101824_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_106032_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_106378_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_106523_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_106524_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_109527_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_109529_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_110000_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_11029_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_111893_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_112042_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_112647_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_11916_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_1234_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_1237_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_137564_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_138947_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_139222_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_141370_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_141945_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_14772_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_148332_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_14897_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_150985_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_151979_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_153387_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_153786_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_155021_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_155962_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_155964_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_19897_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_19902_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_20050_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_20053_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_21823_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_22908_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_23470_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_26316_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_26461_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_27415_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_289275_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_291361_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_293549_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_29565_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_29733_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_299304_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_299306_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_30001_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_300924_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_331329_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_352716_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_35400_LIHC_TCGA-DD-A39Y-01.png
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FLAD1_154961252_154961325_154962035_154962183_154962634_154962733_TCGA-FR-A728-01Sample: TCGA-FR-A728-01
Cancer type: SKCM
ESID: exon_skip_11029
Skipped exon start: 154962036
Skipped exon end: 154962183
Mutation start: 154962050
Mutation end: 154962050
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.K379fs
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FLAD1_154955842_154955873_154956317_154956542_154960580_154960643_TCGA-DX-A6B8-01Sample: TCGA-DX-A6B8-01
Cancer type: SARC
ESID: exon_skip_10986
Skipped exon start: 154956318
Skipped exon end: 154956542
Mutation start: 154956441
Mutation end: 154956442
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: T
AAchange: p.G91fs
FLAD1_154955842_154955873_154956317_154956542_154960580_154960643_TCGA-DX-A6B8-01Sample: TCGA-DX-A6B8-01
Cancer type: SARC
ESID: exon_skip_10986
Skipped exon start: 154956318
Skipped exon end: 154956542
Mutation start: 154956441
Mutation end: 154956442
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: T
AAchange: p.R91fs
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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
2313287_STOMACH154962815154963004154962925154962926Frame_Shift_Ins-Cp.DP492fs
NCIH23_LUNG154956318154956542154956312154956312Missense_MutationCGp.L48V
HEC1B_ENDOMETRIUM154956318154956542154956519154956519Missense_MutationAGp.I117V
YH13_CENTRAL_NERVOUS_SYSTEM154956318154956542154956522154956522Missense_MutationGCp.V118L
HCC2814_LUNG154960581154961325154960617154960617Missense_MutationCTp.R137W
KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE154960581154961325154960767154960767Missense_MutationAGp.T187A
OVK18_OVARY154960581154961325154960876154960876Missense_MutationTCp.V223A
IALM_LUNG154960581154961325154960906154960906Missense_MutationCGp.T233R
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE154960581154961325154960909154960909Missense_MutationAGp.D234G
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE154960581154961325154960918154960918Missense_MutationCTp.T237I
JHUEM1_ENDOMETRIUM154960581154961325154960920154960920Missense_MutationGTp.G238C
KYSE520_OESOPHAGUS154960581154961325154960965154960965Missense_MutationCGp.L253V
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE154960581154961325154961029154961029Missense_MutationACp.N274T
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE154960581154961325154961035154961035Missense_MutationCTp.A276V
UACC812_BREAST154960581154961325154961088154961088Missense_MutationGAp.A294T
647V_URINARY_TRACT154960581154961325154961238154961238Missense_MutationGAp.A344T
KMRC1_KIDNEY154960581154961325154961242154961242Missense_MutationGAp.R345H
SNU1033_LARGE_INTESTINE154960581154961325154961257154961257Missense_MutationCTp.S350L
YD38_UPPER_AERODIGESTIVE_TRACT154960581154961325154961257154961257Missense_MutationCTp.S350L
KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE154960581154961325154961312154961312Missense_MutationATp.K368N
CCK81_LARGE_INTESTINE154962036154962183154962075154962075Missense_MutationCGp.T386S
LN319_CENTRAL_NERVOUS_SYSTEM154962036154962183154962107154962107Missense_MutationAGp.T397A
PACADD137_PANCREAS154962635154962733154962682154962682Missense_MutationGAp.S438N
MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE154962635154962733154962710154962711Missense_MutationGTACp.F448L
HEC6_ENDOMETRIUM154962815154963004154962837154962837Missense_MutationGTp.A463S
HDQP1_BREAST154962815154963004154962840154962840Missense_MutationGCp.E464Q
NCIH345_LUNG154962815154963004154962916154962916Missense_MutationGAp.R489H
HEC108_ENDOMETRIUM154962815154963004154962960154962960Missense_MutationAGp.T504A
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM154962815154963004154962975154962975Missense_MutationCTp.P509S
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE154956318154956542154956396154956396Nonsense_MutationCTp.R76*
LS411N_LARGE_INTESTINE154960581154961325154960953154960953Nonsense_MutationCTp.R249*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FLAD1

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 FLAD1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FLAD1


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RelatedDrugs for FLAD1

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 FLAD1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
FLAD1C0410214Myopathy with Abnormal Lipid Metabolism1UNIPROT