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Center for Computational Systems Medicine
Soverview

Gene summary

Soverview

RNA A-to-I events

Soverview

Differntial gene expression between RNA A-to-I edited tumor samples versus normal samples

Soverview

Protein coding region RNA A-to-I editings

Soverview

The effects of the RNA editing to the miRNA binding sites

Soverview

The effects of the RNA editing to the stability of the RNA structures

Soverview

Relation with ADAR

Soverview

Relation with cancer stages

Soverview

Relation with survival state

Soverview

Related drugs with this gene

Soverview

Related diseases with this gene

Editing gene: P4HTM (CAeditome ID:54681)

Gene summary for P4HTM

check button Gene summary
Gene informationGene symbol

P4HTM

Gene ID

54681

Gene nameprolyl 4-hydroxylase, transmembrane
SynonymsEGLN4|HIDEA|HIFPH4|P4H-TM|PH-4|PH4|PHD4
Cytomap

3p21.31|3p21.3

Type of geneprotein-coding
Descriptiontransmembrane prolyl 4-hydroxylaseHIF-PH4HIF-prolyl hydroxylase 4HPH-4P4H with transmembrane domainProlyl hydroxlase domain-containing 4hypoxia-inducible factor prolyl 4-hydroxylasehypoxia-inducible factor prolyl hydroxylase 4proline 4-hydroxylase
Modification date20210518
UniProtAcc

Q9NXG6

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
P4HTM

GO:0016706

Transmembrane prolyl 4-hydroxylase

22955912


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RNA A-to-I events for P4HTM

check buttonRNA A-to-I editing events across TCGA 33 cancers data sets based on Ensembl gene isoform structure.
all structure

check button RNA editing frequencies across 33 cancers of gene: ENSG00000178467.16

check button RNA A-to-I editing events in Cancer.
CAediting_277496(48990849, +), CAediting_277497(48992356, +), CAediting_277498(48992521, +), CAediting_277499(48992526, +), CAediting_277500(48992527, +), CAediting_277501(48992531, +), CAediting_277502(48992538, +), CAediting_277503(48992919, +), CAediting_277504(48993040, +), CAediting_277505(48993142, +), CAediting_277506(48993145, +), CAediting_277507(48993147, +), CAediting_277508(48993155, +), CAediting_277509(48993208, +), CAediting_277510(48993251, +), CAediting_277511(48993252, +), CAediting_277512(48993662, +), CAediting_277513(48993663, +), CAediting_277514(48993741, +), CAediting_277515(48993742, +), CAediting_277516(48993747, +), CAediting_277517(48993751, +), CAediting_277518(48993768, +), CAediting_277519(48993774, +), CAediting_277520(48993794, +), CAediting_277521(48993807, +), CAediting_277522(48993811, +), CAediting_277523(48993812, +), CAediting_277524(48995725, +), CAediting_277525(48995860, +), CAediting_277526(48996292, +), CAediting_277527(48996294, +), CAediting_277528(48996348, +), CAediting_277529(48996354, +), CAediting_277530(48996377, +), CAediting_277531(48996391, +), CAediting_277532(48996399, +), CAediting_277533(48996403, +), CAediting_277534(48996413, +), CAediting_277535(48996497, +), CAediting_277536(49000295, +), CAediting_277537(49000296, +), CAediting_277538(49000368, +), CAediting_277539(49001512, +), CAediting_277540(49006773, +), CAediting_277541(49007043, +), CAediting_277542(49007061, +), CAediting_277543(49007093, +), CAediting_277544(49007100, +), CAediting_277545(49007101, +), CAediting_277546(49007108, +),

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RNA editing positional annotations for P4HTM using Annovar

check button Protein coding RNA editing(s).
CAeditome IDPositionVariant typeENSTNTchangeAAchangeSIFT_scorePolyphen2_HVAR_scorePROVEAN_pred
CAediting_277539chr3_49001512_+nonsynonymous SNVENST00000343546.7c.A511Gp.S171GTDN
CAediting_277539chr3_49001512_+nonsynonymous SNVENST00000383729.7c.A511Gp.S171GTDN
CAediting_277540chr3_49006773_+nonsynonymous SNVENST00000343546.7c.A1558Gp.N520DDDD
CAediting_277540chr3_49006773_+nonsynonymous SNVENST00000383729.7c.A1375Gp.N459DDDD

check button Gene structure information of RNA editing(s).
CAeditome IDPositionVariant type
CAediting_277496chr3_48990849_+exonic
CAediting_277497chr3_48992356_+ncRNA_intronic
CAediting_277498chr3_48992521_+ncRNA_intronic
CAediting_277499chr3_48992526_+ncRNA_intronic
CAediting_277500chr3_48992527_+ncRNA_intronic
CAediting_277501chr3_48992531_+ncRNA_intronic
CAediting_277502chr3_48992538_+ncRNA_intronic
CAediting_277503chr3_48992919_+ncRNA_intronic
CAediting_277504chr3_48993040_+ncRNA_intronic
CAediting_277505chr3_48993142_+ncRNA_intronic
CAediting_277506chr3_48993145_+ncRNA_intronic
CAediting_277507chr3_48993147_+ncRNA_intronic
CAediting_277508chr3_48993155_+ncRNA_intronic
CAediting_277509chr3_48993208_+ncRNA_intronic
CAediting_277510chr3_48993251_+ncRNA_intronic
CAediting_277511chr3_48993252_+ncRNA_intronic
CAediting_277512chr3_48993662_+ncRNA_intronic
CAediting_277513chr3_48993663_+ncRNA_intronic
CAediting_277514chr3_48993741_+ncRNA_intronic
CAediting_277515chr3_48993742_+ncRNA_intronic
CAediting_277516chr3_48993747_+ncRNA_intronic
CAediting_277517chr3_48993751_+ncRNA_intronic
CAediting_277518chr3_48993768_+ncRNA_intronic
CAediting_277519chr3_48993774_+ncRNA_intronic
CAediting_277520chr3_48993794_+ncRNA_intronic
CAediting_277521chr3_48993807_+ncRNA_intronic
CAediting_277522chr3_48993811_+ncRNA_intronic
CAediting_277523chr3_48993812_+ncRNA_intronic
CAediting_277524chr3_48995725_+ncRNA_intronic
CAediting_277525chr3_48995860_+ncRNA_intronic
CAediting_277526chr3_48996292_+ncRNA_exonic
CAediting_277527chr3_48996294_+ncRNA_exonic
CAediting_277528chr3_48996348_+ncRNA_exonic
CAediting_277529chr3_48996354_+ncRNA_exonic
CAediting_277530chr3_48996377_+ncRNA_exonic
CAediting_277531chr3_48996391_+ncRNA_exonic
CAediting_277532chr3_48996399_+ncRNA_exonic
CAediting_277533chr3_48996403_+ncRNA_exonic
CAediting_277534chr3_48996413_+ncRNA_exonic
CAediting_277535chr3_48996497_+ncRNA_intronic
CAediting_277536chr3_49000295_+ncRNA_intronic
CAediting_277537chr3_49000296_+ncRNA_intronic
CAediting_277538chr3_49000368_+ncRNA_intronic
CAediting_277539chr3_49001512_+exonic
CAediting_277540chr3_49006773_+exonic
CAediting_277541chr3_49007043_+ncRNA_exonic
CAediting_277542chr3_49007061_+ncRNA_exonic
CAediting_277543chr3_49007093_+ncRNA_exonic
CAediting_277544chr3_49007100_+ncRNA_exonic
CAediting_277545chr3_49007101_+ncRNA_exonic
CAediting_277546chr3_49007108_+ncRNA_exonic

check button Repat-regional RNA editing(s).
CAeditome IDPositionRepeat familyRepeat sub familyRepeat name
CAediting_277497chr3_48992356_+SINEAluAluSz
CAediting_277498chr3_48992521_+SINEAluAluSz
CAediting_277499chr3_48992526_+SINEAluAluSz
CAediting_277500chr3_48992527_+SINEAluAluSz
CAediting_277501chr3_48992531_+SINEAluAluSz
CAediting_277502chr3_48992538_+SINEAluAluSz
CAediting_277503chr3_48992919_+SINEAluAluSq2
CAediting_277504chr3_48993040_+SINEAluAluSp
CAediting_277505chr3_48993142_+SINEAluAluSp
CAediting_277506chr3_48993145_+SINEAluAluSp
CAediting_277507chr3_48993147_+SINEAluAluSp
CAediting_277508chr3_48993155_+SINEAluAluSp
CAediting_277509chr3_48993208_+SINEAluAluSp
CAediting_277510chr3_48993251_+SINEAluAluSp
CAediting_277511chr3_48993252_+SINEAluAluSp
CAediting_277512chr3_48993662_+SINEAluAluSx1
CAediting_277513chr3_48993663_+SINEAluAluSx1
CAediting_277514chr3_48993741_+SINEAluAluSx1
CAediting_277515chr3_48993742_+SINEAluAluSx1
CAediting_277516chr3_48993747_+SINEAluAluSx1
CAediting_277517chr3_48993751_+SINEAluAluSx1
CAediting_277518chr3_48993768_+SINEAluAluSx1
CAediting_277519chr3_48993774_+SINEAluAluSx1
CAediting_277520chr3_48993794_+SINEAluAluSx1
CAediting_277521chr3_48993807_+SINEAluAluSx1
CAediting_277522chr3_48993811_+SINEAluAluSx1
CAediting_277523chr3_48993812_+SINEAluAluSx1
CAediting_277524chr3_48995725_+SINEAluAluSx1
CAediting_277525chr3_48995860_+SINEAluAluSx1
CAediting_277526chr3_48996292_+SINEAluAluSc
CAediting_277527chr3_48996294_+SINEAluAluSc
CAediting_277528chr3_48996348_+SINEAluAluSc
CAediting_277529chr3_48996354_+SINEAluAluSc
CAediting_277530chr3_48996377_+SINEAluAluSc
CAediting_277531chr3_48996391_+SINEAluAluSc
CAediting_277532chr3_48996399_+SINEAluAluSc
CAediting_277533chr3_48996403_+SINEAluAluSc
CAediting_277534chr3_48996413_+SINEAluAluSc
CAediting_277535chr3_48996497_+SINEAluAluSc
CAediting_277536chr3_49000295_+SINEAluAluJo
CAediting_277537chr3_49000296_+SINEAluAluJo
CAediting_277538chr3_49000368_+SINEAluAluJo

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RNA A-to-I editing events in the alternative splicing sites for P4HTM

check button RNA A-to-I editing(s) in the alternative splicing sites.
AStypeCAeditomIDEditing positionAS positionAS directionExonic locationWildtype sequenceWildtype splicing strengthRNA edited sequenceRNA edited splicing strength
ESCAediting_277526chr3_48996292_+48996273:489962953SS0+1iTGTTTTGTTTTGTTTTTTGAGAC-3.91TGTTTTGTTTTGTTTTTTGGGAC4.84
MEX_2CAediting_277526chr3_48996292_+48996273:489962953SS0+1iTGTTTTGTTTTGTTTTTTGAGAC-3.91TGTTTTGTTTTGTTTTTTGGGAC4.84
MEX_1CAediting_277526chr3_48996292_+48996273:489962953SS0+1iTGTTTTGTTTTGTTTTTTGAGAC-3.91TGTTTTGTTTTGTTTTTTGGGAC4.84
ESCAediting_277527chr3_48996294_+48996273:489962953SS2+0iTGTTTTGTTTTGTTTTTTGAGAC-3.91TGTTTTGTTTTGTTTTTTGAGGC-4.15
MEX_2CAediting_277527chr3_48996294_+48996273:489962953SS2+0iTGTTTTGTTTTGTTTTTTGAGAC-3.91TGTTTTGTTTTGTTTTTTGAGGC-4.15
MEX_1CAediting_277527chr3_48996294_+48996273:489962953SS2+0iTGTTTTGTTTTGTTTTTTGAGAC-3.91TGTTTTGTTTTGTTTTTTGAGGC-4.15

check button Differential percent of spliced in (PSI) between RNA A-to-I edited and non-edited samples for ENSG00000178467.16.P4HTM.

check button Correlation between RNA A-to-I editing and PSI for ENSG00000178467.16.P4HTM.

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Differntial gene expression between RNA A-to-I edited versus non-edited samples for P4HTM

check button Differential gene expressions between RNA A-to-I edited and non-edited tumor samples.
* The grey color means N/A.

check button Correlation between RNA A-to-I editing and gene expression.

check button - Differentially expressed gene between RNA A-to-I edited samples versus non-edited samples.
* Click on the image to enlarge it in a new window.

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Protein coding region RNA A-to-I editings for P4HTM

check button- Lollipop plot for RNA A-to-I editings across protein structure.
* Click on the image to enlarge it in a new window.
all structure


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The effects of the RNA editing to the miRNA binding sites for P4HTM

**If you are searching a miRNA gene with RNA editing events in its seed regions, please see the search pages of miRNA targets to discover the effects of this RNA editing event to miRNA regulations. For more information, please check the files in the Download page.

check button RNA A-to-I editing in the 3'-UTR regions of mRNA gained miRNA binding sites.
CAeditom_IDPositionENSGENSTmiRNATargetscan startTargetscan endTargetscan scoreMiranda startMiranda endMiranda scoreMiranda energy
CAediting_277546chr3_49007108_+ENSG00000178467.16ENST00000343546hsa-miR-10a-5p49007104490071107mer-m84900708949007111157.00-14.70
CAediting_277546chr3_49007108_+ENSG00000178467.16ENST00000343546hsa-miR-10b-5p49007104490071107mer-m84900708949007111149.00-14.70
CAediting_277546chr3_49007108_+ENSG00000178467.16ENST00000343546hsa-miR-146b-3p49007103490071097mer-m84900708949007110145.00-18.75
CAediting_277546chr3_49007108_+ENSG00000178467.16ENST00000343546hsa-miR-6732-3p49007105490071117mer-m84900709049007112146.00-11.76
CAediting_277546chr3_49007108_+ENSG00000178467.16ENST00000491739hsa-miR-10a-5p49007104490071107mer-m84900708949007111157.00-14.70
CAediting_277546chr3_49007108_+ENSG00000178467.16ENST00000491739hsa-miR-10b-5p49007104490071107mer-m84900708949007111149.00-14.70
CAediting_277546chr3_49007108_+ENSG00000178467.16ENST00000491739hsa-miR-146b-3p49007103490071097mer-m84900708949007110145.00-18.75
CAediting_277546chr3_49007108_+ENSG00000178467.16ENST00000491739hsa-miR-6732-3p49007105490071117mer-m84900709049007112146.00-11.76
CAediting_277542chr3_49007061_+ENSG00000178467.16ENST00000343546hsa-miR-196a-1-3p49007056490070627mer-m84900704349007063152.00-7.05
CAediting_277542chr3_49007061_+ENSG00000178467.16ENST00000491739hsa-miR-196a-1-3p49007056490070627mer-m84900704349007063152.00-7.05

check button RNA A-to-I editing in the 3'-UTR regions of mRNA lost miRNA binding sites.
CAeditom_IDPositionENSGENSTmiRNATargetscan startTargetscan endTargetscan scoreMiranda startMiranda endMiranda scoreMiranda energy

check button RNA A-to-I editing in lncRNA gained miRNA binding sites.
CAeditom_IDPositionENSGENSTmiRNATargetscan startTargetscan endTargetscan scoreMiranda startMiranda endMiranda scoreMiranda energy

check button RNA A-to-I editing in lncRNA lost miRNA binding sites.
CAeditom_IDPositionENSGENSTmiRNATargetscan startTargetscan endTargetscan scoreMiranda startMiranda endMiranda scoreMiranda energy

check button RNA A-to-I editing in miRNAs gained binding to lncRNA.
CAeditom_IDPositionENSGENSTmiRNATargetscan startTargetscan endTargetscan scoreMiranda startMiranda endMiranda scoreMiranda energy

check button RNA A-to-I editing in miRNAs lost binding to lncRNA.
CAeditom_IDPositionENSGENSTmiRNATargetscan startTargetscan endTargetscan scoreMiranda startMiranda endMiranda scoreMiranda energy

check button RNA A-to-I editing in miRNAs gained binding to the 3'-UTR region of mRNA.
CAeditom_IDPositionENSGENSTmiRNATargetscan startTargetscan endTargetscan scoreMiranda startMiranda endMiranda scoreMiranda energy
CAediting_1054808chr15_66496985_-ENSG00000178467.16ENST00000475629hsa-miR-451248999660489996678mer-1a4899964648999667158-24.07

check button RNA A-to-I editing in miRNAs lost binding to the 3'-UTR mRNA.
CAeditom_IDPositionENSGENSTmiRNATargetscan startTargetscan endTargetscan scoreMiranda startMiranda endMiranda scoreMiranda energy

check button Differentially expressed gene-miRNA network

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The effects of the RNA editing to the stability of the RNA structures for P4HTM

check button - RNA A-to-I editing in mRNA.
* Click on the image to enlarge it in a new window.
ENSTENST typeRNA structure without RNA A-to-I editing.RNA structure with RNA A-to-I editing.
ENST00000343546.7protein_codingSoverviewSoverview
ENST00000383729.7protein_codingSoverviewSoverview
ENST00000444213.4protein_codingSoverviewSoverview
ENST00000468374.4processed_transcriptSoverviewSoverview
ENST00000472301.4retained_intronSoverviewSoverview
ENST00000475629.4protein_codingSoverviewSoverview
ENST00000484115.4retained_intronSoverviewSoverview
ENST00000609406.1processed_transcriptSoverviewSoverview
ENST00000486817.1processed_transcriptSoverviewSoverview
ENST00000485210.1retained_intronSoverviewSoverview
ENST00000491739.4protein_codingSoverviewSoverview

check button RNA A-to-I editing in RNA structures for Minimum free energy (MFE).
CAeditom_IDENSTEditing_PositionMFE_withoneAIMFE_withoutAIMFE_withmultipleAI
CAediting_277496ENST00000343546.7chr3_48990849_+-1008.40-1008.00-1021.10
CAediting_277539ENST00000343546.7chr3_49001512_+-1009.10-1008.00-1021.10
CAediting_277540ENST00000343546.7chr3_49006773_+-1011.80-1008.00-1021.10
CAediting_277541ENST00000343546.7chr3_49007043_+-1012.20-1008.00-1021.10
CAediting_277542ENST00000343546.7chr3_49007061_+-1010.80-1008.00-1021.10
CAediting_277543ENST00000343546.7chr3_49007093_+-1008.50-1008.00-1021.10
CAediting_277544ENST00000343546.7chr3_49007100_+-1011.60-1008.00-1021.10
CAediting_277545ENST00000343546.7chr3_49007101_+-1008.40-1008.00-1021.10
CAediting_277546ENST00000343546.7chr3_49007108_+-1008.20-1008.00-1021.10
CAediting_277496ENST00000383729.7chr3_48990849_+-943.10-942.20-954.20
CAediting_277539ENST00000383729.7chr3_49001512_+-943.60-942.20-954.20
CAediting_277540ENST00000383729.7chr3_49006773_+-946.40-942.20-954.20
CAediting_277541ENST00000383729.7chr3_49007043_+-943.80-942.20-954.20
CAediting_277542ENST00000383729.7chr3_49007061_+-942.20-942.20-954.20
CAediting_277543ENST00000383729.7chr3_49007093_+-941.90-942.20-954.20
CAediting_277544ENST00000383729.7chr3_49007100_+-944.70-942.20-954.20
CAediting_277545ENST00000383729.7chr3_49007101_+-943.60-942.20-954.20
CAediting_277546ENST00000383729.7chr3_49007108_+-941.90-942.20-954.20
CAediting_277496ENST00000444213.4chr3_48990849_+-268.30-264.70-271.80
CAediting_277539ENST00000444213.4chr3_49001512_+-268.20-264.70-271.80
CAediting_277496ENST00000468374.4chr3_48990849_+-294.40-294.30-296.30
CAediting_277539ENST00000468374.4chr3_49001512_+-295.40-294.30-296.30
CAediting_277496ENST00000472301.4chr3_48990849_+-1208.40-1207.50-1220.00
CAediting_277539ENST00000472301.4chr3_49001512_+-1208.90-1207.50-1220.00
CAediting_277540ENST00000472301.4chr3_49006773_+-1209.30-1207.50-1220.00
CAediting_277541ENST00000472301.4chr3_49007043_+-1210.50-1207.50-1220.00
CAediting_277542ENST00000472301.4chr3_49007061_+-1208.80-1207.50-1220.00
CAediting_277543ENST00000472301.4chr3_49007093_+-1207.80-1207.50-1220.00
CAediting_277544ENST00000472301.4chr3_49007100_+-1211.10-1207.50-1220.00
CAediting_277545ENST00000472301.4chr3_49007101_+-1207.90-1207.50-1220.00
CAediting_277546ENST00000472301.4chr3_49007108_+-1208.40-1207.50-1220.00
CAediting_277496ENST00000475629.4chr3_48990849_+-283.90-280.30-283.90
CAediting_277496ENST00000484115.4chr3_48990849_+-2274.80-2274.60-2282.50
CAediting_277539ENST00000484115.4chr3_49001512_+-2274.20-2274.60-2282.50
CAediting_277540ENST00000484115.4chr3_49006773_+-2275.80-2274.60-2282.50
CAediting_277541ENST00000484115.4chr3_49007043_+-2275.00-2274.60-2282.50
CAediting_277542ENST00000484115.4chr3_49007061_+-2275.60-2274.60-2282.50
CAediting_277543ENST00000484115.4chr3_49007093_+-2274.50-2274.60-2282.50
CAediting_277544ENST00000484115.4chr3_49007100_+-2276.30-2274.60-2282.50
CAediting_277545ENST00000484115.4chr3_49007101_+-2276.00-2274.60-2282.50
CAediting_277546ENST00000484115.4chr3_49007108_+-2278.20-2274.60-2282.50
CAediting_277496ENST00000609406.1chr3_48990849_+-806.80-804.80-806.80
CAediting_277526ENST00000486817.1chr3_48996292_+-192.90-193.40-212.60
CAediting_277527ENST00000486817.1chr3_48996294_+-199.70-193.40-212.60
CAediting_277528ENST00000486817.1chr3_48996348_+-195.40-193.40-212.60
CAediting_277529ENST00000486817.1chr3_48996354_+-193.40-193.40-212.60
CAediting_277530ENST00000486817.1chr3_48996377_+-197.10-193.40-212.60
CAediting_277531ENST00000486817.1chr3_48996391_+-195.90-193.40-212.60
CAediting_277532ENST00000486817.1chr3_48996399_+-196.00-193.40-212.60
CAediting_277533ENST00000486817.1chr3_48996403_+-196.00-193.40-212.60
CAediting_277534ENST00000486817.1chr3_48996413_+-198.00-193.40-212.60
CAediting_277539ENST00000486817.1chr3_49001512_+-196.40-193.40-212.60
CAediting_277539ENST00000485210.1chr3_49001512_+-404.50-405.20-404.50
CAediting_277539ENST00000491739.4chr3_49001512_+-271.50-267.90-278.00
CAediting_277540ENST00000491739.4chr3_49006773_+-269.10-267.90-278.00
CAediting_277541ENST00000491739.4chr3_49007043_+-270.80-267.90-278.00
CAediting_277542ENST00000491739.4chr3_49007061_+-268.00-267.90-278.00
CAediting_277543ENST00000491739.4chr3_49007093_+-268.40-267.90-278.00
CAediting_277544ENST00000491739.4chr3_49007100_+-271.50-267.90-278.00
CAediting_277545ENST00000491739.4chr3_49007101_+-268.30-267.90-278.00
CAediting_277546ENST00000491739.4chr3_49007108_+-267.80-267.90-278.00

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Relation with ADAR for P4HTM

check button Correlation between ADAR gene expression and RNA editing frequency
CancerCAeditomIDpositionADAR1 (p-val)ADAR1 (coeff.)ADAR2 (p-val)ADAR2 (coeff.)ADAR3 (p-val)ADAR3 (coeff.)

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Relation with cancer stages for P4HTM

check button Correlation between Cancer stages and RNA editing frequency
CancerStage_typeCAeditomIDpositionP-valCoeff.

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Relation with survival for P4HTM

check button Correlation between RNA editing and survival
CancerCAeditomIDpositionKMpvalueCoxpvalueCoxHR

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RelatedDrugs for P4HTM

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.8 2021-01-03)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
P4HTMQ9NXG6DB00126Ascorbic acidTransmembrane prolyl 4-hydroxylase SmallMoleculeDrugapproved|nutraceutical

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RelatedDiseases for P4HTM

check button Diseases associated with this gene.
(DisGeNet 7.0)
GeneDisease IDDisease name# pubmedsSource
P4HTMC0036572Seizures2GENOMICS_ENGLAND
P4HTMC0557874Global developmental delay2GENOMICS_ENGLAND
P4HTMC3714756Intellectual Disability2GENOMICS_ENGLAND
P4HTMC0013363Dysautonomia1GENOMICS_ENGLAND
P4HTMC0026827Muscle hypotonia1GENOMICS_ENGLAND
P4HTMC0037315Sleep Apnea Syndromes1GENOMICS_ENGLAND
P4HTMC1842364Central hypotonia1GENOMICS_ENGLAND
P4HTMC3203358Hypoventilation1GENOMICS_ENGLAND
P4HTMC4316870Abnormality of the eye1GENOMICS_ENGLAND