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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 AFTPH

check button Gene summary
Gene informationGene symbol

AFTPH

Gene ID

54812

Gene nameaftiphilin
SynonymsNbla10388
Cytomap

2p14

Type of geneprotein-coding
Descriptionaftiphilinaftiphilin protein
Modification date20180523
UniProtAcc

Q6ULP2

ContextPubMed: AFTPH [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 AFTPH 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 AFTPH

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 AFTPH

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_325989264751660:64751746:64778576:64780543:64794695:6479484764778576:64780543ENSG00000119844.10ENST00000422803.1,ENST00000498706.1,ENST00000238855.7
exon_skip_325994264780009:64780543:64794695:64794847:64796225:6479635264794695:64794847ENSG00000119844.10ENST00000422803.1,ENST00000409183.1,ENST00000238856.4,ENST00000498706.1,ENST00000409933.1,ENST00000238855.7
exon_skip_325999264796225:64796352:64796756:64796813:64800079:6480020264796756:64796813ENSG00000119844.10ENST00000422803.1,ENST00000409183.1,ENST00000238856.4,ENST00000498706.1,ENST00000409933.1,ENST00000238855.7
exon_skip_326000264796756:64796813:64800079:64800202:64806619:6480668064800079:64800202ENSG00000119844.10ENST00000422803.1,ENST00000409183.1,ENST00000238856.4,ENST00000498706.1,ENST00000409933.1,ENST00000238855.7
exon_skip_326003264800079:64800202:64806619:64806680:64812555:6481267964806619:64806680ENSG00000119844.10ENST00000238856.4
exon_skip_326004264800079:64800202:64806619:64808407:64812555:6481267964806619:64808407ENSG00000119844.10ENST00000498706.1
exon_skip_326009264806619:64806680:64808323:64808407:64812555:6481267964808323:64808407ENSG00000119844.10ENST00000422803.1,ENST00000409183.1,ENST00000409933.1,ENST00000238855.7

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

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Exon skipping events with PSIs in GTEx for AFTPH

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_325989264751660:64751746:64778576:64780543:64794695:6479484764778576:64780543ENSG00000119844.10ENST00000422803.1,ENST00000238855.7,ENST00000498706.1
exon_skip_325994264780009:64780543:64794695:64794847:64796225:6479635264794695:64794847ENSG00000119844.10ENST00000238856.4,ENST00000422803.1,ENST00000238855.7,ENST00000498706.1,ENST00000409933.1,ENST00000409183.1
exon_skip_325999264796225:64796352:64796756:64796813:64800079:6480020264796756:64796813ENSG00000119844.10ENST00000238856.4,ENST00000422803.1,ENST00000238855.7,ENST00000498706.1,ENST00000409933.1,ENST00000409183.1
exon_skip_326000264796756:64796813:64800079:64800202:64806619:6480668064800079:64800202ENSG00000119844.10ENST00000238856.4,ENST00000422803.1,ENST00000238855.7,ENST00000498706.1,ENST00000409933.1,ENST00000409183.1
exon_skip_326003264800079:64800202:64806619:64806680:64812555:6481267964806619:64806680ENSG00000119844.10ENST00000238856.4
exon_skip_326004264800079:64800202:64806619:64808407:64812555:6481267964806619:64808407ENSG00000119844.10ENST00000498706.1
exon_skip_326009264806619:64806680:64808323:64808407:64812555:6481267964808323:64808407ENSG00000119844.10ENST00000422803.1,ENST00000238855.7,ENST00000409933.1,ENST00000409183.1

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 AFTPH

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
ENST0000023885564778576647805435CDS-5UTR
ENST000002388556479469564794847Frame-shift
ENST000004099336479469564794847Frame-shift
ENST000002388556479675664796813In-frame
ENST000004099336479675664796813In-frame
ENST000002388556480007964800202In-frame
ENST000004099336480007964800202In-frame
ENST000002388556480832364808407In-frame
ENST000004099336480832364808407In-frame

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
ENST0000023885564778576647805435CDS-5UTR
ENST000002388556479469564794847Frame-shift
ENST000004099336479469564794847Frame-shift
ENST000002388556479675664796813In-frame
ENST000004099336479675664796813In-frame
ENST000002388556480007964800202In-frame
ENST000004099336480007964800202In-frame
ENST000002388556480832364808407In-frame
ENST000004099336480832364808407In-frame

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

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
ENST000002388554104936647967566479681325292585738757
ENST000004099332828936647967566479681322152271738757
ENST000002388554104936648000796480020225862708757798
ENST000004099332828936648000796480020222722394757798
ENST000002388554104936648083236480840727702853818846
ENST000004099332828936648083236480840724562539818846

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
ENST000002388554104936647967566479681325292585738757
ENST000004099332828936647967566479681322152271738757
ENST000002388554104936648000796480020225862708757798
ENST000004099332828936648000796480020222722394757798
ENST000002388554104936648083236480840727702853818846
ENST000004099332828936648083236480840724562539818846

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
Q6ULP27387571936ChainID=PRO_0000064488;Note=Aftiphilin
Q6ULP27387571936ChainID=PRO_0000064488;Note=Aftiphilin
Q6ULP27577981936ChainID=PRO_0000064488;Note=Aftiphilin
Q6ULP27577981936ChainID=PRO_0000064488;Note=Aftiphilin
Q6ULP2818846819846Alternative sequenceID=VSP_059492;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q6ULP2818846819846Alternative sequenceID=VSP_059492;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q6ULP2818846819820Alternative sequenceID=VSP_059493;Note=In isoform 3. AS->GT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q6ULP2818846819820Alternative sequenceID=VSP_059493;Note=In isoform 3. AS->GT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q6ULP2818846821936Alternative sequenceID=VSP_059494;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q6ULP2818846821936Alternative sequenceID=VSP_059494;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q6ULP28188461936ChainID=PRO_0000064488;Note=Aftiphilin
Q6ULP28188461936ChainID=PRO_0000064488;Note=Aftiphilin
Q6ULP2818846825829RegionNote=Clathrin-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6ULP2818846825829RegionNote=Clathrin-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255


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
Q6ULP27387571936ChainID=PRO_0000064488;Note=Aftiphilin
Q6ULP27387571936ChainID=PRO_0000064488;Note=Aftiphilin
Q6ULP27577981936ChainID=PRO_0000064488;Note=Aftiphilin
Q6ULP27577981936ChainID=PRO_0000064488;Note=Aftiphilin
Q6ULP2818846819846Alternative sequenceID=VSP_059492;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q6ULP2818846819846Alternative sequenceID=VSP_059492;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q6ULP2818846819820Alternative sequenceID=VSP_059493;Note=In isoform 3. AS->GT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q6ULP2818846819820Alternative sequenceID=VSP_059493;Note=In isoform 3. AS->GT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q6ULP2818846821936Alternative sequenceID=VSP_059494;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q6ULP2818846821936Alternative sequenceID=VSP_059494;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q6ULP28188461936ChainID=PRO_0000064488;Note=Aftiphilin
Q6ULP28188461936ChainID=PRO_0000064488;Note=Aftiphilin
Q6ULP2818846825829RegionNote=Clathrin-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q6ULP2818846825829RegionNote=Clathrin-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for AFTPH

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.
AFTPH_KIRC_exon_skip_325989_psi_boxplot.png
boxplot
AFTPH_KIRC_exon_skip_326004_psi_boxplot.png
boxplot
AFTPH_KIRC_exon_skip_326009_psi_boxplot.png
boxplot
AFTPH_LGG_exon_skip_325989_psi_boxplot.png
boxplot
AFTPH_LIHC_exon_skip_325989_psi_boxplot.png
boxplot
AFTPH_LUAD_exon_skip_325989_psi_boxplot.png
boxplot
AFTPH_STAD_exon_skip_325989_psi_boxplot.png
boxplot

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_325989
64778577647805436477869364778693Frame_Shift_DelG-p.G29fs
LIHCTCGA-DD-A1EG-01exon_skip_325989
64778577647805436477869964778699Frame_Shift_DelT-p.F31fs
LIHCTCGA-DD-A1EG-01exon_skip_325989
64778577647805436477892564778925Frame_Shift_DelT-p.V106fs
LGGTCGA-HT-7480-01exon_skip_325989
64778577647805436477913464779134Frame_Shift_DelC-p.K175fs
LGGTCGA-HT-7480-01exon_skip_325989
64778577647805436477913464779134Frame_Shift_DelC-p.P177fs
LIHCTCGA-DD-A39Y-01exon_skip_325989
64778577647805436477957064779570Frame_Shift_DelA-p.Q322fs
LIHCTCGA-DD-A3A0-01exon_skip_325989
64778577647805436477958164779581Frame_Shift_DelT-p.F325fs
KIRCTCGA-B8-5550-01exon_skip_325989
64778577647805436477974564779769Frame_Shift_DelAGTTGGTTCTCCCAAAGAAGAAAGT-p.379_387del
STADTCGA-CG-4442-01exon_skip_325989
64778577647805436477984464779844Frame_Shift_DelA-p.V412fs
LIHCTCGA-G3-A3CJ-01exon_skip_325989
64778577647805436478019364780193Frame_Shift_DelA-p.K529fs
LIHCTCGA-DD-A1EG-01exon_skip_326000
64800080648002026480012964800129Frame_Shift_DelA-p.E774fs
KIRCTCGA-A3-3349-01exon_skip_326004
64806620648084076480837464808374Frame_Shift_DelG-p.D835fs
KIRCTCGA-A3-3349-01exon_skip_326009
64808324648084076480837464808374Frame_Shift_DelG-p.D835fs
LIHCTCGA-BC-A112-01exon_skip_325989
64778577647805436477882564778826Frame_Shift_Ins-Ap.K73fs
STADTCGA-BR-6802-01exon_skip_325989
64778577647805436477886064778861Frame_Shift_Ins-Ap.I84fs
STADTCGA-BR-6802-01exon_skip_325989
64778577647805436477886164778862Frame_Shift_Ins-Ap.I84fs
LIHCTCGA-BC-A112-01exon_skip_325989
64778577647805436477954564779546Frame_Shift_Ins-Ap.K313fs
LUADTCGA-05-4424-01exon_skip_325989
64778577647805436477862764778627Nonsense_MutationCTp.R7*
STADTCGA-BR-8680-01exon_skip_325989
64778577647805436477894864778948Nonsense_MutationGTp.E114*
STADTCGA-BR-8680-01exon_skip_325989
64778577647805436477894864778948Nonsense_MutationGTp.E114X
LIHCTCGA-EP-A2KB-01exon_skip_325989
64778577647805436477948564779485Nonsense_MutationGTp.G293X
THCATCGA-DJ-A4V4-01exon_skip_325989
64778577647805436478002564780025Nonsense_MutationGTp.E473*
UCECTCGA-AP-A059-01exon_skip_325989
64778577647805436478040364780403Nonsense_MutationCTp.R599*
UCECTCGA-AX-A05Z-01exon_skip_325989
64778577647805436478040364780403Nonsense_MutationCTp.R599*
THYMTCGA-XU-A92R-01exon_skip_325989
64778577647805436478040964780409Nonsense_MutationGTp.E601X
THYMTCGA-ZB-A96I-01exon_skip_326000
64800080648002026480012864800128Nonsense_MutationGTp.E774X

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
AFTPH_64806619_64806680_64808323_64808407_64812555_64812679_TCGA-A3-3349-01Sample: TCGA-A3-3349-01
Cancer type: KIRC
ESID: exon_skip_326009
Skipped exon start: 64808324
Skipped exon end: 64808407
Mutation start: 64808374
Mutation end: 64808374
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.D835fs
AFTPH_64806619_64806680_64808323_64808407_64812555_64812679_TCGA-A3-3349-01Sample: TCGA-A3-3349-01
Cancer type: KIRC
ESID: exon_skip_326004
Skipped exon start: 64806620
Skipped exon end: 64808407
Mutation start: 64808374
Mutation end: 64808374
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.D835fs
exon_skip_326004_KIRC_TCGA-A3-3349-01.png
boxplot
exon_skip_326009_KIRC_TCGA-A3-3349-01.png
boxplot
AFTPH_64800079_64800202_64806619_64808407_64812555_64812679_TCGA-A3-3349-01Sample: TCGA-A3-3349-01
Cancer type: KIRC
ESID: exon_skip_326009
Skipped exon start: 64808324
Skipped exon end: 64808407
Mutation start: 64808374
Mutation end: 64808374
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.D835fs
AFTPH_64800079_64800202_64806619_64808407_64812555_64812679_TCGA-A3-3349-01Sample: TCGA-A3-3349-01
Cancer type: KIRC
ESID: exon_skip_326004
Skipped exon start: 64806620
Skipped exon end: 64808407
Mutation start: 64808374
Mutation end: 64808374
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.D835fs
exon_skip_326004_KIRC_TCGA-A3-3349-01.png
boxplot
exon_skip_326009_KIRC_TCGA-A3-3349-01.png
boxplot
AFTPH_64751660_64751746_64778576_64780543_64794695_64794847_TCGA-B8-5550-01Sample: TCGA-B8-5550-01
Cancer type: KIRC
ESID: exon_skip_325989
Skipped exon start: 64778577
Skipped exon end: 64780543
Mutation start: 64779745
Mutation end: 64779769
Mutation type: Frame_Shift_Del
Reference seq: AGTTGGTTCTCCCAAAGAAGAAAGT
Mutation seq: -
AAchange: p.379_387del
exon_skip_325989_KIRC_TCGA-B8-5550-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
NCIH1435_LUNG64778577647805436478049664780496Frame_Shift_DelG-p.G630fs
HTCC3_THYROID64778577647805436478054164780541Frame_Shift_DelC-p.Q645fs
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE64808324648084076480839464808396In_Frame_DelCAC-p.T844del
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE64806620648084076480839464808396In_Frame_DelCAC-p.T844del
BICR18_UPPER_AERODIGESTIVE_TRACT64808324648084076480839464808396In_Frame_DelCAC-p.T844del
BICR18_UPPER_AERODIGESTIVE_TRACT64806620648084076480839464808396In_Frame_DelCAC-p.T844del
SNUC5_LARGE_INTESTINE64778577647805436477869964778699Missense_MutationTAp.F31I
CHLA266_SOFT_TISSUE64778577647805436477870064778700Missense_MutationTCp.F31S
ISTSL1_LUNG64778577647805436477870364778703Missense_MutationGAp.G32D
SNU1040_LARGE_INTESTINE64778577647805436477876964778769Missense_MutationGAp.R54H
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE64778577647805436477878264778782Missense_MutationGCp.E58D
NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE64778577647805436477899964778999Missense_MutationCTp.P131S
LS180_LARGE_INTESTINE64778577647805436477906664779066Missense_MutationGAp.G153E
NCIH661_LUNG64778577647805436477940264779402Missense_MutationAGp.N265S
SNU719_STOMACH64778577647805436477940564779405Missense_MutationACp.K266T
NCIH2004RT_SOFT_TISSUE64778577647805436477943264779432Missense_MutationCAp.S275Y
HT115_LARGE_INTESTINE64778577647805436477943264779432Missense_MutationCAp.S275Y
KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE64778577647805436477947164779471Missense_MutationAGp.K288R
RERFGC1B_STOMACH64778577647805436477947164779471Missense_MutationAGp.K288R
LN443_CENTRAL_NERVOUS_SYSTEM64778577647805436477953364779533Missense_MutationGAp.G309S
UMUC1_URINARY_TRACT64778577647805436477960564779605Missense_MutationAGp.K333E
YAPC_PANCREAS64778577647805436477966064779660Missense_MutationACp.Q351P
SNU719_STOMACH64778577647805436477972964779729Missense_MutationATp.K374I
HCC2998_LARGE_INTESTINE64778577647805436477979864779798Missense_MutationAGp.N397S
SNU719_STOMACH64778577647805436477984564779845Missense_MutationACp.K413Q
SNU1040_LARGE_INTESTINE64778577647805436477988564779885Missense_MutationAGp.D426G
EN_ENDOMETRIUM64778577647805436477994564779945Missense_MutationCAp.P446Q
KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE64778577647805436478010164780101Missense_MutationCTp.S498L
PANC0403_PANCREAS64778577647805436478011964780119Missense_MutationCGp.S504C
NCIH2342_LUNG64778577647805436478047964780479Missense_MutationCTp.P624L
MET2B64794696647948476479477164794771Missense_MutationGAp.E671K
J82_URINARY_TRACT64800080648002026480016564800165Missense_MutationCTp.S786L
NCIH854_LUNG64778577647805436477922764779227Nonsense_MutationATp.K207*
JHUEM7_ENDOMETRIUM64778577647805436477934764779347Nonsense_MutationGTp.E247*
SKLU1_LUNG64778577647805436478013364780133Nonsense_MutationGTp.E509*
CCLFPEDS0008T_SOFT_TISSUE64794696647948476479484664794846Splice_SiteGCp.G696R

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_326004264800079:64800202:64806619:64808407:64812555:6481267964806619:64808407ENST00000498706.1COADrs1001291chr2:64807294T/G2.59e-04

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


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


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RelatedDrugs for AFTPH

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 AFTPH

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