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DOID:0050427

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Name:xeroderma pigmentosum
Namespace:FANTOM
Xrefs:
links:

MSH:D014983
OMIM:278700
OMIM:278720
OMIM:278730
OMIM:278740
OMIM:278750
OMIM:278760
OMIM:278780

OMIM:610651
Comments:OMIM mapping confirmed by DO. [SN].

Ontology association
Each term has an is_a parent in the Disease Ontology, which has a linkage to an another entity and FANTOM5 samples.Libraries were grouped into mutually exclusive facets according to the FANTOM5 sample ontology mapping to DISEASE ontologies.

link to ontology dataset
data

Parents

is_a:DOID:0050737(autosomal recessive disease)



Children


is a:FF:10563-108A5 (xeroderma pigentosum b cell line:XPL 17),FF:10564-108A6 (),FF:10566-108A8 ()

Ontology Tree: Loaded from BioPortal

Ontorolgy tree(Small window open)

FF samples

Human (Homo sapiens)

Mouse (Mus musculus)

Enrichment analysis: top 100 FFCP enriched with this ontology termTOP 100 FANTOM5 Cage Peaks enriched with DOID:0050427 (xeroderma pigmentosum), sorted by p-values
Analyst: Hideya Kawaji

link to source dataset
human : data
mouse : data

P-valueFFCPShort description
5.42e-195FFCP PHASE1:Hg19::chr11:33676379..33676397,+#_3ef41129557f72bbf5b7c6ad70518d0cp@chr11:33676379..33676397, +
5.42e-195FFCP PHASE2:Hg19::chr1:101914223..101914228,-#_3ef41129557f72bbf5b7c6ad70518d0cp@chr1:101914223..101914228, -
5.42e-195FFCP PHASE2:Hg19::chr1:152880744..152880747,+#_3ef41129557f72bbf5b7c6ad70518d0cp3@IVL
5.42e-195FFCP PHASE2:Hg19::chr2:25643157..25643159,+#_3ef41129557f72bbf5b7c6ad70518d0cp@chr2:25643157..25643159, +
5.42e-195FFCP PHASE1:Hg19::chr2:25643157..25643159,+#_3ef41129557f72bbf5b7c6ad70518d0cp@chr2:25643157..25643159, +
5.42e-195FFCP PHASE1:Hg19::chr1:152880744..152880747,+#_3ef41129557f72bbf5b7c6ad70518d0cp3@IVL
5.42e-195FFCP PHASE1:Hg19::chr1:101838740..101838743,+#_3ef41129557f72bbf5b7c6ad70518d0cp@chr1:101838740..101838743, +
5.42e-195FFCP PHASE2:Hg19::chr11:33676379..33676397,+#_3ef41129557f72bbf5b7c6ad70518d0cp@chr11:33676379..33676397, +
5.42e-195FFCP PHASE1:Hg19::chr1:101914223..101914228,-#_3ef41129557f72bbf5b7c6ad70518d0cp@chr1:101914223..101914228, -
5.42e-195FFCP PHASE2:Hg19::chr1:101838740..101838743,+#_3ef41129557f72bbf5b7c6ad70518d0cp@chr1:101838740..101838743, +
9.37e-99FFCP PHASE2:Hg19::chr18:67613122..67613129,-#_e115f3e0f50be7a67d842b24243b4d1dp@chr18:67613122..67613129, -
9.37e-99FFCP PHASE2:Hg19::chr22:23055632..23055638,+#_e115f3e0f50be7a67d842b24243b4d1dp3@DQ234400
9.37e-99FFCP PHASE1:Hg19::chr4:5364767..5364769,+#_e115f3e0f50be7a67d842b24243b4d1dp@chr4:5364767..5364769, +
9.37e-99FFCP PHASE1:Hg19::chr22:23055632..23055638,+#_e115f3e0f50be7a67d842b24243b4d1dp3@DQ234400
9.37e-99FFCP PHASE2:Hg19::chr4:5364767..5364769,+#_e115f3e0f50be7a67d842b24243b4d1dp@chr4:5364767..5364769, +
9.37e-99FFCP PHASE1:Hg19::chr18:67613122..67613129,-#_e115f3e0f50be7a67d842b24243b4d1dp@chr18:67613122..67613129, -
2.55e-98FFCP PHASE1:Hg19::chr2:889109..889122,-#_b5eecf9e89be0158dc0e1005f0daaaebp@chr2:889109..889122, -
2.55e-98FFCP PHASE2:Hg19::chr11:114997342..114997344,-#_b5eecf9e89be0158dc0e1005f0daaaebp@chr11:114997342..114997344, -
2.55e-98FFCP PHASE1:Hg19::chr12:50616792..50616804,-#_b5eecf9e89be0158dc0e1005f0daaaebp29@LIMA1
2.55e-98FFCP PHASE1:Hg19::chr6:166581392..166581398,+#_b5eecf9e89be0158dc0e1005f0daaaebp@chr6:166581392..166581398, +
2.55e-98FFCP PHASE1:Hg19::chr13:99573473..99573481,-#_b5eecf9e89be0158dc0e1005f0daaaebp@chr13:99573473..99573481, -
2.55e-98FFCP PHASE1:Hg19::chr11:114997342..114997344,-#_b5eecf9e89be0158dc0e1005f0daaaebp@chr11:114997342..114997344, -
2.55e-98FFCP PHASE2:Hg19::chr2:889109..889122,-#_b5eecf9e89be0158dc0e1005f0daaaebp@chr2:889109..889122, -
2.55e-98FFCP PHASE2:Hg19::chr6:166581392..166581398,+#_b5eecf9e89be0158dc0e1005f0daaaebp@chr6:166581392..166581398, +
2.55e-98FFCP PHASE1:Hg19::chr8:56034458..56034491,+#_b5eecf9e89be0158dc0e1005f0daaaebp@chr8:56034458..56034491, +
2.55e-98FFCP PHASE2:Hg19::chr11:2644357..2644369,+#_b5eecf9e89be0158dc0e1005f0daaaebp@chr11:2644357..2644369, +
2.55e-98FFCP PHASE2:Hg19::chr20:46041421..46041448,-#_b5eecf9e89be0158dc0e1005f0daaaebp3@ENST00000437920
2.55e-98FFCP PHASE1:Hg19::chr11:2644357..2644369,+#_b5eecf9e89be0158dc0e1005f0daaaebp@chr11:2644357..2644369, +
2.55e-98FFCP PHASE2:Hg19::chr12:50616792..50616804,-#_b5eecf9e89be0158dc0e1005f0daaaebp29@LIMA1
2.55e-98FFCP PHASE1:Hg19::chr20:56058449..56058484,+#_b5eecf9e89be0158dc0e1005f0daaaebp@chr20:56058449..56058484, +
2.55e-98FFCP PHASE1:Hg19::chr6:115036814..115036827,+#_b5eecf9e89be0158dc0e1005f0daaaebp@chr6:115036814..115036827, +
2.55e-98FFCP PHASE2:Hg19::chr6:115036814..115036827,+#_b5eecf9e89be0158dc0e1005f0daaaebp@chr6:115036814..115036827, +
2.55e-98FFCP PHASE2:Hg19::chr8:56034458..56034491,+#_b5eecf9e89be0158dc0e1005f0daaaebp@chr8:56034458..56034491, +
2.55e-98FFCP PHASE2:Hg19::chr13:99573473..99573481,-#_b5eecf9e89be0158dc0e1005f0daaaebp@chr13:99573473..99573481, -
2.55e-98FFCP PHASE2:Hg19::chr20:56058449..56058484,+#_b5eecf9e89be0158dc0e1005f0daaaebp@chr20:56058449..56058484, +
2.55e-98FFCP PHASE1:Hg19::chr20:46041421..46041448,-#_b5eecf9e89be0158dc0e1005f0daaaebp3@ENST00000437920
1.23e-66FFCP PHASE2:Hg19::chr7:70241758..70241770,+#_5f0e66114eae81fc8c768c66251e5958p47@AUTS2
1.23e-66FFCP PHASE1:Hg19::chr7:70241758..70241770,+#_5f0e66114eae81fc8c768c66251e5958p47@AUTS2
2.39e-66FFCP PHASE2:Hg19::chr2:70388198..70388245,-#_be3ea9bdd57cdb46c238917f058e7ac2p@chr2:70388198..70388245, -
2.39e-66FFCP PHASE1:Hg19::chr1:207105167..207105184,-#_be3ea9bdd57cdb46c238917f058e7ac2p5@PIGR
2.39e-66FFCP PHASE2:Hg19::chr12:131201475..131201485,-#_be3ea9bdd57cdb46c238917f058e7ac2p@chr12:131201475..131201485, -
2.39e-66FFCP PHASE1:Hg19::chr17:76475138..76475154,-#_be3ea9bdd57cdb46c238917f058e7ac2p@chr17:76475138..76475154, -
2.39e-66FFCP PHASE1:Hg19::chr12:131201475..131201485,-#_be3ea9bdd57cdb46c238917f058e7ac2p@chr12:131201475..131201485, -
2.39e-66FFCP PHASE1:Hg19::chr2:70388198..70388245,-#_be3ea9bdd57cdb46c238917f058e7ac2p@chr2:70388198..70388245, -
2.39e-66FFCP PHASE2:Hg19::chr1:207105167..207105184,-#_be3ea9bdd57cdb46c238917f058e7ac2p5@PIGR
2.39e-66FFCP PHASE2:Hg19::chr17:76475138..76475154,-#_be3ea9bdd57cdb46c238917f058e7ac2p@chr17:76475138..76475154, -
4.66e-66FFCP PHASE2:Hg19::chr8:142117194..142117210,+#_176345c38018b23dfa0636253f7dec7cp@chr8:142117194..142117210, +
4.66e-66FFCP PHASE1:Hg19::chr13:100016406..100016419,+#_176345c38018b23dfa0636253f7dec7cp@chr13:100016406..100016419, +
4.66e-66FFCP PHASE2:Hg19::chr11:109959243..109959256,+#_176345c38018b23dfa0636253f7dec7cp@chr11:109959243..109959256, +
4.66e-66FFCP PHASE1:Hg19::chr11:109959243..109959256,+#_176345c38018b23dfa0636253f7dec7cp@chr11:109959243..109959256, +
4.66e-66FFCP PHASE2:Hg19::chr13:100016406..100016419,+#_176345c38018b23dfa0636253f7dec7cp@chr13:100016406..100016419, +
4.66e-66FFCP PHASE1:Hg19::chr8:142117194..142117210,+#_176345c38018b23dfa0636253f7dec7cp@chr8:142117194..142117210, +
1.46e-50FFCP PHASE2:Hg19::chr22:39843128..39843135,+#_56a76022578976a9e6f0e7cd50778726p@chr22:39843128..39843135, +
1.46e-50FFCP PHASE1:Hg19::chr22:39843128..39843135,+#_56a76022578976a9e6f0e7cd50778726p@chr22:39843128..39843135, +
1.46e-50FFCP PHASE2:Hg19::chr14:75802635..75802649,+#_56a76022578976a9e6f0e7cd50778726p@chr14:75802635..75802649, +
1.46e-50FFCP PHASE1:Hg19::chr14:75802635..75802649,+#_56a76022578976a9e6f0e7cd50778726p@chr14:75802635..75802649, +
1.46e-50FFCP PHASE2:Hg19::chr18:56203145..56203154,+#_56a76022578976a9e6f0e7cd50778726p@chr18:56203145..56203154, +
1.46e-50FFCP PHASE1:Hg19::chr18:56203145..56203154,+#_56a76022578976a9e6f0e7cd50778726p@chr18:56203145..56203154, +
2.42e-50FFCP PHASE1:Hg19::chr8:6594766..6594776,+#_0659e3e0d26e545e6d8037c46083c880p@chr8:6594766..6594776, +
2.42e-50FFCP PHASE1:Hg19::chr1:98642709..98642713,-#_0659e3e0d26e545e6d8037c46083c880p@chr1:98642709..98642713, -
2.42e-50FFCP PHASE2:Hg19::chr9:35650561..35650570,-#_0659e3e0d26e545e6d8037c46083c880p3@SIT1
2.42e-50FFCP PHASE2:Hg19::chr14:25495787..25495796,-#_0659e3e0d26e545e6d8037c46083c880p@chr14:25495787..25495796, -
2.42e-50FFCP PHASE2:Hg19::chr8:6594766..6594776,+#_0659e3e0d26e545e6d8037c46083c880+, p@chr8:6594766..6594776
2.42e-50FFCP PHASE1:Hg19::chr8:135577784..135577795,-#_0659e3e0d26e545e6d8037c46083c880p15@ZFAT
2.42e-50FFCP PHASE2:Hg19::chr9:79057008..79057019,+#_0659e3e0d26e545e6d8037c46083c880p5@GCNT1
2.42e-50FFCP PHASE2:Hg19::chr15:59665311..59665320,-#_0659e3e0d26e545e6d8037c46083c880p6@MYO1E
2.42e-50FFCP PHASE1:Hg19::chr1:207105188..207105210,-#_0659e3e0d26e545e6d8037c46083c880p3@PIGR
2.42e-50FFCP PHASE1:Hg19::chr2:160779191..160779202,-#_0659e3e0d26e545e6d8037c46083c880p@chr2:160779191..160779202, -
2.42e-50FFCP PHASE1:Hg19::chr9:35650561..35650570,-#_0659e3e0d26e545e6d8037c46083c880p3@SIT1
2.42e-50FFCP PHASE2:Hg19::chr1:98642709..98642713,-#_0659e3e0d26e545e6d8037c46083c880p@chr1:98642709..98642713, -
2.42e-50FFCP PHASE2:Hg19::chr2:160779191..160779202,-#_0659e3e0d26e545e6d8037c46083c880p@chr2:160779191..160779202, -
2.42e-50FFCP PHASE1:Hg19::chr14:25495787..25495796,-#_0659e3e0d26e545e6d8037c46083c880p@chr14:25495787..25495796, -
2.42e-50FFCP PHASE1:Hg19::chrX:11786454..11786465,+#_0659e3e0d26e545e6d8037c46083c880p25@MSL3
2.42e-50FFCP PHASE2:Hg19::chrX:11786454..11786465,+#_0659e3e0d26e545e6d8037c46083c880p25@MSL3
2.42e-50FFCP PHASE1:Hg19::chr15:59665311..59665320,-#_0659e3e0d26e545e6d8037c46083c880p6@MYO1E
2.42e-50FFCP PHASE2:Hg19::chr3:178791955..178791978,-#_0659e3e0d26e545e6d8037c46083c880p@chr3:178791955..178791978, -
2.42e-50FFCP PHASE1:Hg19::chr3:178791955..178791978,-#_0659e3e0d26e545e6d8037c46083c880p@chr3:178791955..178791978, -
2.42e-50FFCP PHASE1:Hg19::chr9:79057008..79057019,+#_0659e3e0d26e545e6d8037c46083c880p5@GCNT1
2.42e-50FFCP PHASE2:Hg19::chr8:135577784..135577795,-#_0659e3e0d26e545e6d8037c46083c880p15@ZFAT
2.42e-50FFCP PHASE1:Hg19::chr6:115036832..115036842,+#_0659e3e0d26e545e6d8037c46083c880p@chr6:115036832..115036842, +
2.42e-50FFCP PHASE2:Hg19::chr1:207105188..207105210,-#_0659e3e0d26e545e6d8037c46083c880p3@PIGR
2.42e-50FFCP PHASE2:Hg19::chr6:115036832..115036842,+#_0659e3e0d26e545e6d8037c46083c880p@chr6:115036832..115036842, +
3.99e-50FFCP PHASE2:Hg19::chr17:79213963..79213968,+#_3cff97898d10a97a6bba48847d670e22+, p@chr17:79213963..79213968
3.99e-50FFCP PHASE1:Hg19::chr11:109958732..109958742,-#_3cff97898d10a97a6bba48847d670e22p@chr11:109958732..109958742, -
3.99e-50FFCP PHASE2:Hg19::chr15:90546643..90546659,+#_3cff97898d10a97a6bba48847d670e22p@chr15:90546643..90546659, +
3.99e-50FFCP PHASE1:Hg19::chr15:90546643..90546659,+#_3cff97898d10a97a6bba48847d670e22p@chr15:90546643..90546659, +
3.99e-50FFCP PHASE2:Hg19::chr9:87316933..87316943,+#_3cff97898d10a97a6bba48847d670e22p@chr9:87316933..87316943, +
3.99e-50FFCP PHASE2:Hg19::chr16:9934872..9934888,-#_3cff97898d10a97a6bba48847d670e22p@chr16:9934872..9934888, -
3.99e-50FFCP PHASE1:Hg19::chr9:87316933..87316943,+#_3cff97898d10a97a6bba48847d670e22p@chr9:87316933..87316943, +
3.99e-50FFCP PHASE2:Hg19::chr15:79310342..79310352,-#_3cff97898d10a97a6bba48847d670e22p17@RASGRF1
3.99e-50FFCP PHASE1:Hg19::chr15:79310342..79310352,-#_3cff97898d10a97a6bba48847d670e22p17@RASGRF1
3.99e-50FFCP PHASE1:Hg19::chr16:9934872..9934888,-#_3cff97898d10a97a6bba48847d670e22p@chr16:9934872..9934888, -
3.99e-50FFCP PHASE1:Hg19::chr17:79213963..79213968,+#_3cff97898d10a97a6bba48847d670e22p@chr17:79213963..79213968, +
3.99e-50FFCP PHASE2:Hg19::chr11:109958732..109958742,-#_3cff97898d10a97a6bba48847d670e22p@chr11:109958732..109958742, -
6.58e-50FFCP PHASE2:Hg19::chr12:115345793..115345801,+#_bcde5b1086d754777285b9a943f9977fp@chr12:115345793..115345801, +
6.58e-50FFCP PHASE2:Hg19::chr4:147194614..147194626,+#_bcde5b1086d754777285b9a943f9977fp@chr4:147194614..147194626, +
6.58e-50FFCP PHASE1:Hg19::chr2:42180940..42180951,-#_bcde5b1086d754777285b9a943f9977fp1@LOC400950
6.58e-50FFCP PHASE2:Hg19::chr2:42180940..42180951,-#_bcde5b1086d754777285b9a943f9977fp1@LOC400950
6.58e-50FFCP PHASE2:Hg19::chr7:2208099..2208102,+#_bcde5b1086d754777285b9a943f9977fp@chr7:2208099..2208102, +
6.58e-50FFCP PHASE2:Hg19::chr2:197274224..197274231,-#_bcde5b1086d754777285b9a943f9977fp@chr2:197274224..197274231, -

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