Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8295
Gene name	Transformation/transcription domain associated protein
Gene symbol	TRRAP
Synonyms (NCBI Gene)	DEDDFADFNA75PAF350/400PAF400STAF40TR-APTra1
Chromosome	7
Chromosome location	7q22.1
Summary	This gene encodes a large multidomain protein of the phosphoinositide 3-kinase-related kinases (PIKK) family. The encoded protein is a common component of many histone acetyltransferase (HAT) complexes and plays a role in transcription and DNA repair by r

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs200157211	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs1562940289	C>T	Pathogenic	Coding sequence variant, missense variant
rs1562945106	G>A	Pathogenic	Coding sequence variant, missense variant
rs1562957569	T>A	Pathogenic	Coding sequence variant, missense variant
rs1562957576	G>T	Pathogenic	Coding sequence variant, missense variant
rs1562959030	G>A	Pathogenic	Coding sequence variant, missense variant
rs1584324956	G>A	Likely-pathogenic	Missense variant, coding sequence variant

135

Show/Hide all (135)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017022	hsa-miR-335-5p	Microarray	18185580
MIRT021348	hsa-miR-9-5p	Microarray	17612493
MIRT028429	hsa-miR-30a-5p	Proteomics	18668040
MIRT052563	hsa-let-7a-5p	CLASH	23622248
MIRT052563	hsa-let-7a-5p	CLASH	23622248
MIRT051861	hsa-let-7c-5p	CLASH	23622248
MIRT051634	hsa-let-7e-5p	CLASH	23622248
MIRT050991	hsa-miR-17-5p	CLASH	23622248
MIRT050404	hsa-miR-23a-3p	CLASH	23622248
MIRT049886	hsa-miR-31-5p	CLASH	23622248
MIRT047272	hsa-miR-181b-5p	CLASH	23622248
MIRT045381	hsa-miR-185-5p	CLASH	23622248
MIRT044338	hsa-miR-106b-5p	CLASH	23622248
MIRT043836	hsa-miR-330-3p	CLASH	23622248
MIRT041264	hsa-miR-193b-3p	CLASH	23622248
MIRT036716	hsa-miR-760	CLASH	23622248
MIRT036320	hsa-miR-1229-3p	CLASH	23622248
MIRT036039	hsa-miR-1301-3p	CLASH	23622248
MIRT1457893	hsa-miR-1197	CLIP-seq
MIRT1457894	hsa-miR-1252	CLIP-seq
MIRT1457895	hsa-miR-125a-3p	CLIP-seq
MIRT1457896	hsa-miR-1321	CLIP-seq
MIRT1457897	hsa-miR-181a	CLIP-seq
MIRT1457898	hsa-miR-181b	CLIP-seq
MIRT1457899	hsa-miR-181c	CLIP-seq
MIRT1457900	hsa-miR-181d	CLIP-seq
MIRT1457901	hsa-miR-2052	CLIP-seq
MIRT1457902	hsa-miR-27a	CLIP-seq
MIRT1457903	hsa-miR-27b	CLIP-seq
MIRT1457904	hsa-miR-3130-5p	CLIP-seq
MIRT1457905	hsa-miR-3180-5p	CLIP-seq
MIRT1457906	hsa-miR-320a	CLIP-seq
MIRT1457907	hsa-miR-320b	CLIP-seq
MIRT1457908	hsa-miR-320c	CLIP-seq
MIRT1457909	hsa-miR-320d	CLIP-seq
MIRT1457910	hsa-miR-3609	CLIP-seq
MIRT1457911	hsa-miR-3662	CLIP-seq
MIRT1457912	hsa-miR-3673	CLIP-seq
MIRT1457913	hsa-miR-3686	CLIP-seq
MIRT1457914	hsa-miR-371-5p	CLIP-seq
MIRT1457915	hsa-miR-371b-5p	CLIP-seq
MIRT1457916	hsa-miR-3934	CLIP-seq
MIRT1457917	hsa-miR-4262	CLIP-seq
MIRT1457918	hsa-miR-4419a	CLIP-seq
MIRT1457919	hsa-miR-4429	CLIP-seq
MIRT1457920	hsa-miR-4453	CLIP-seq
MIRT1457921	hsa-miR-4467	CLIP-seq
MIRT1457922	hsa-miR-4476	CLIP-seq
MIRT1457923	hsa-miR-4482	CLIP-seq
MIRT1457924	hsa-miR-4497	CLIP-seq
MIRT1457925	hsa-miR-4510	CLIP-seq
MIRT1457926	hsa-miR-4538	CLIP-seq
MIRT1457927	hsa-miR-4652-3p	CLIP-seq
MIRT1457928	hsa-miR-4659a-3p	CLIP-seq
MIRT1457929	hsa-miR-4659b-3p	CLIP-seq
MIRT1457930	hsa-miR-4698	CLIP-seq
MIRT1457931	hsa-miR-4739	CLIP-seq
MIRT1457932	hsa-miR-4756-5p	CLIP-seq
MIRT1457933	hsa-miR-486-5p	CLIP-seq
MIRT1457934	hsa-miR-488	CLIP-seq
MIRT1457935	hsa-miR-511	CLIP-seq
MIRT1457936	hsa-miR-513a-5p	CLIP-seq
MIRT1457937	hsa-miR-513c	CLIP-seq
MIRT1457938	hsa-miR-514b-5p	CLIP-seq
MIRT1457939	hsa-miR-520a-5p	CLIP-seq
MIRT1457940	hsa-miR-520d-5p	CLIP-seq
MIRT1457941	hsa-miR-524-5p	CLIP-seq
MIRT1457942	hsa-miR-525-5p	CLIP-seq
MIRT1457943	hsa-miR-548ag	CLIP-seq
MIRT1457944	hsa-miR-548ah	CLIP-seq
MIRT1457945	hsa-miR-548ai	CLIP-seq
MIRT1457946	hsa-miR-548n	CLIP-seq
MIRT1457947	hsa-miR-548t	CLIP-seq
MIRT1457948	hsa-miR-548u	CLIP-seq
MIRT1457949	hsa-miR-764	CLIP-seq
MIRT1457894	hsa-miR-1252	CLIP-seq
MIRT1457895	hsa-miR-125a-3p	CLIP-seq
MIRT2137352	hsa-miR-3194-3p	CLIP-seq
MIRT1457906	hsa-miR-320a	CLIP-seq
MIRT1457907	hsa-miR-320b	CLIP-seq
MIRT1457908	hsa-miR-320c	CLIP-seq
MIRT1457909	hsa-miR-320d	CLIP-seq
MIRT2137353	hsa-miR-338-3p	CLIP-seq
MIRT1457913	hsa-miR-3686	CLIP-seq
MIRT1457916	hsa-miR-3934	CLIP-seq
MIRT1457919	hsa-miR-4429	CLIP-seq
MIRT1457927	hsa-miR-4652-3p	CLIP-seq
MIRT2137354	hsa-miR-4727-5p	CLIP-seq
MIRT2137355	hsa-miR-4769-3p	CLIP-seq
MIRT1457933	hsa-miR-486-5p	CLIP-seq
MIRT1457940	hsa-miR-520d-5p	CLIP-seq
MIRT1457941	hsa-miR-524-5p	CLIP-seq
MIRT1457949	hsa-miR-764	CLIP-seq
MIRT2137353	hsa-miR-338-3p	CLIP-seq
MIRT1457940	hsa-miR-520d-5p	CLIP-seq
MIRT1457941	hsa-miR-524-5p	CLIP-seq
MIRT2358118	hsa-miR-548c-3p	CLIP-seq
MIRT2651550	hsa-miR-1207-5p	CLIP-seq
MIRT2651551	hsa-miR-1257	CLIP-seq
MIRT2651552	hsa-miR-1827	CLIP-seq
MIRT1457904	hsa-miR-3130-5p	CLIP-seq
MIRT1457905	hsa-miR-3180-5p	CLIP-seq
MIRT2651553	hsa-miR-3182	CLIP-seq
MIRT2137352	hsa-miR-3194-3p	CLIP-seq
MIRT1457912	hsa-miR-3673	CLIP-seq
MIRT2651554	hsa-miR-3675-5p	CLIP-seq
MIRT2651555	hsa-miR-4283	CLIP-seq
MIRT1457920	hsa-miR-4453	CLIP-seq
MIRT1457923	hsa-miR-4482	CLIP-seq
MIRT2651556	hsa-miR-4489	CLIP-seq
MIRT1457926	hsa-miR-4538	CLIP-seq
MIRT2651557	hsa-miR-4677-3p	CLIP-seq
MIRT2651558	hsa-miR-4679	CLIP-seq
MIRT2651559	hsa-miR-4738-3p	CLIP-seq
MIRT2651560	hsa-miR-4763-3p	CLIP-seq
MIRT1457934	hsa-miR-488	CLIP-seq
MIRT1457939	hsa-miR-520a-5p	CLIP-seq
MIRT1457942	hsa-miR-525-5p	CLIP-seq
MIRT2651561	hsa-miR-940	CLIP-seq
MIRT2651550	hsa-miR-1207-5p	CLIP-seq
MIRT2651551	hsa-miR-1257	CLIP-seq
MIRT2651552	hsa-miR-1827	CLIP-seq
MIRT1457904	hsa-miR-3130-5p	CLIP-seq
MIRT2651553	hsa-miR-3182	CLIP-seq
MIRT2651554	hsa-miR-3675-5p	CLIP-seq
MIRT2694213	hsa-miR-4270	CLIP-seq
MIRT2651555	hsa-miR-4283	CLIP-seq
MIRT2694214	hsa-miR-4441	CLIP-seq
MIRT1457923	hsa-miR-4482	CLIP-seq
MIRT2651556	hsa-miR-4489	CLIP-seq
MIRT2651557	hsa-miR-4677-3p	CLIP-seq
MIRT2651558	hsa-miR-4679	CLIP-seq
MIRT2651559	hsa-miR-4738-3p	CLIP-seq
MIRT2651560	hsa-miR-4763-3p	CLIP-seq
MIRT2651561	hsa-miR-940	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000124	Component	SAGA complex	IBA
GO:0000124	Component	SAGA complex	IDA	11564863
GO:0000124	Component	SAGA complex	NAS	9674425, 9885574, 19114550
GO:0000786	Component	Nucleosome	IDA	27153538
GO:0000812	Component	Swr1 complex	IDA	24463511
GO:0003712	Function	Transcription coregulator activity	IDA	11418595
GO:0005515	Function	Protein binding	IPI	9708738, 11418595, 15115762, 17314511, 21150319, 24981860, 35140242, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9708738
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005794	Component	Golgi apparatus	IDA
GO:0006282	Process	Regulation of DNA repair	NAS	11406595, 11564863
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	17694077
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	9603525
GO:0016301	Function	Kinase activity	IKR	9708738
GO:0033276	Component	Transcription factor TFTC complex	IDA	10373431
GO:0033276	Component	Transcription factor TFTC complex	NAS	10373431
GO:0035267	Component	NuA4 histone acetyltransferase complex	IBA
GO:0035267	Component	NuA4 histone acetyltransferase complex	IDA	10966108, 14966270, 27153538
GO:0042981	Process	Regulation of apoptotic process	NAS	14966270
GO:0043484	Process	Regulation of RNA splicing	NAS	11564863
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	18206972, 27153538
GO:0051726	Process	Regulation of cell cycle	IMP	27153538
GO:0080135	Process	Regulation of cellular response to stress	IEA
GO:0140861	Process	DNA repair-dependent chromatin remodeling	IBA
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IDA	27153538
GO:2000779	Process	Regulation of double-strand break repair	NAS	14966270

MIM	HGNC	e!Ensembl
603015	12347	ENSG00000196367

Q9Y4A5

Protein name

Transformation/transcription domain-associated protein (350/400 kDa PCAF-associated factor) (PAF350/400) (STAF40) (Tra1 homolog)

Protein function

Adapter protein, which is found in various multiprotein chromatin complexes with histone acetyltransferase activity (HAT), which gives a specific tag for epigenetic transcription activation. Component of the NuA4 histone acetyltransferase comple

PDB

7KTR , 8H7G , 8QRI , 8XVG , 8XVV , 9C47

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02259	FAT	2849 → 3204	FAT domain	Family
PF00454	PI3_PI4_kinase	3535 → 3783	Phosphatidylinositol 3- and 4-kinase	Family

Sequence

MAFVATQGATVVDQTTLMKKYLQFVAALTDVNTPDETKLKMMQEVSENFENVTSSPQYST
FLEHIIPRFLTFLQDGEVQFLQEKPAQQLRKLVLEIIHRIPTNEHLRPHTKNVLSVMFRF
LETENEENVLICLRIIIELHKQFRPPITQEIHHFLDFVKQIYKELPKVVNRYFENPQVIP
ENTVPPPEMVGMITTIAVKVNPEREDSETRTHSIIPRGSLSLKVLAELPIIVVLMYQLYK
LNIHNVVAEFVPLIMNTIAIQVSAQARQHKLYNKELYADFIAAQIKTLSFLAYIIRIYQE
LVTKYSQQMVKGMLQLLSNCPAETAHLRKELLIAAKHILTTELRNQFIPCMDKLFDESIL
IGSGYTARETLRPLAYSTLADLVHHVRQHLPLSDLSLAVQLFAKNIDDESLPSSIQTMSC
KLLLNLVDCIRSKSEQESGNGRDVLMRMLEVFVLKFHTIARYQLSAIFKKCKPQSELGAV
EAALPGVPTAPAAPGPAPSPAPVPAPPPPPPPPPPATPVTPAPVPPFEKQGEKDKEDKQT
FQVTDCRSLVKTLVCGVKTITWGITSCKAPGEAQFIPNKQLQPKETQIYIKLVKYAMQAL
DIYQVQIAGNGQTYIRVANCQTVRMKEEKEVLEHFAGVFTMMNPLTFKEIFQTTVPYMVE
RISKNYALQIVANSFLANPTTSALFATILVEYLLDRLPEMGSNVELSNLYLKLFKLVFGS
VSLFAAENEQMLKPHLHKIVNSSMELAQTAKEPYNYFLLLRALFRSIGGGSHDLLYQEFL
PLLPNLLQGLNMLQSGLHKQHMKDLFVELCLTVPVRLSSLLPYLPMLMDPLVSALNGSQT
LVSQGLRTLELCVDNLQPDFLYDHIQPVRAELMQALWRTLRNPADSISHVAYRVLGKFGG
SNRKMLKESQKLHYVVTEVQGPSITVEFSDCKASLQLPMEKAIETALDCLKSANTEPYYR
RQAWEVIKCFLVAMMSLEDNKHALYQLLAHPNFTEKTIPNVIISHRYKAQDTPARKTFEQ
ALTGAFMSAVIKDLRPSALPFVASLIRHYTMVAVAQQCGPFLLPCYQVGSQPSTAMFHSE
ENGSKGMDPLVLIDAIAICMAYEEKELCKIGEVALAVIFDVASIILGSKERACQLPLFSY
IVERLCACCYEQAWYAKLGGVVSIKFLMERLPLTWVLQNQQTFLKALLFVMMDLTGEVSN
GAVAMAKTTLEQLLMRCATPLKDEERAEEIVAAQEKSFHHVTHDLVREVTSPNSTVRKQA
MHSLQVLAQVTGKSVTVIMEPHKEVLQDMVPPKKHLLRHQPANAQIGLMEGNTFCTTLQP
RLFTMDLNVVEHKVFYTELLNLCEAEDSALTKLPCYKSLPSLVPLRIAALNALAACNYLP
QSREKIIAALFKALNSTNSELQEAGEACMRKFLEGATIEVDQIHTHMRPLLMMLGDYRSL
TLNVVNRLTSVTRLFPNSFNDKFCDQMMQHLRKWMEVVVITHKGGQRSDGNESISECGRC
PLSPFCQFEEMKICSAIINLFHLIPAAPQTLVKPLLEVVMKTERAMLIEAGSPFREPLIK
FLTRHPSQTVELFMMEATLNDPQWSRMFMSFLKHKDARPLRDVLAANPNRFITLLLPGGA
QTAVRPGSPSTSTMRLDLQFQAIKIISIIVKNDDSWLASQHSLVSQLRRVWVSENFQERH
RKENMAATNWKEPKLLAYCLLNYCKRNYGDIELLFQLLRAFTGRFLCNMTFLKEYMEEEI
PKNYSIAQKRALFFRFVDFNDPNFGDELKAKVLQHILNPAFLYSFEKGEGEQLLGPPNPE
GDNPESITSVFITKVLDPEKQADMLDSLRIYLLQYATLLVEHAPHHIHDNNKNRNSKLRR
LMTFAWPCLLSKACVDPACKYSGHLLLAHIIAKFAIHKKIVLQVFHSLLKAHAMEARAIV
RQAMAILTPAVPARMEDGHQMLTHWTRKIIVEEGHTVPQLVHILHLIVQHFKVYYPVRHH
LVQHMVSAMQRLGFTPSVTIEQRRLAVDLSEVVIKWELQRIKDQQPDSDMDPNSSGEGVN
SVSSSIKRGLSVDSAQEVKRFRTATGAISAVFGRSQSLPGADSLLAKPIDKQHTDTVVNF
LIRVACQVNDNTNTAGSPGEVLSRRCVNLLKTALRPDMWPKSELKLQWFDKLLMTVEQPN
QVNYGNICTGLEVLSFLLTVLQSPAILSSFKPLQRGIAACMTCGNTKVLRAVHSLLSRLM
SIFPTEPSTSSVASKYEELECLYAAVGKVIYEGLTNYEKATNANPSQLFGTLMILKSACS
NNPSYIDRLISVFMRSLQKMVREHLNPQAASGSTEATSGTSELVMLSLELVKTRLAVMSM
EMRKNFIQAILTSLIEKSPDAKILRAVVKIVEEWVKNNSPMAANQTPTLREKSILLVKMM
TYIEKRFPEDLELNAQFLDLVNYVYRDETLSGSELTAKLEPAFLSGLRCAQPLIRAKFFE
VFDNSMKRRVYERLLYVTCSQNWEAMGNHFWIKQCIELLLAVCEKSTPIGTSCQGAMLPS
ITNVINLADSHDRAAFAMVTHVKQEPRERENSESKEEDVEIDIELAPGDQTSTPKTKELS
EKDIGNQLHMLTNRHDKFLDTLREVKTGALLSAFVQLCHISTTLAEKTWVQLFPRLWKIL
SDRQQHALAGEISPFLCSGSHQVQRDCQPSALNCFVEAMSQCVPPIPIRPCVLKYLGKTH
NLWFRSTLMLEHQAFEKGLSLQIKPKQTTEFYEQESITPPQQEILDSLAELYSLLQEEDM
WAGLWQKRCKYSETATAIAYEQHGFFEQAQESYEKAMDKAKKEHERSNASPAIFPEYQLW
EDHWIRCSKELNQWEALTEYGQSKGHINPYLVLECAWRVSNWTAMKEALVQVEVSCPKEM
AWKVNMYRGYLAICHPEEQQLSFIERLVEMASSLAIREWRRLPHVVSHVHTPLLQAAQQI
IELQEAAQINAGLQPTNLGRNNSLHDMKTVVKTWRNRLPIVSDDLSHWSSIFMWRQHHYQ
GKPTWSGMHSSSIVTAYENSSQHDPSSNNAMLGVHASASAIIQYGKIARKQGLVNVALDI
LSRIHTIPTVPIVDCFQKIRQQVKCYLQLAGVMGKNECMQGLEVIESTNLKYFTKEMTAE
FYALKGMFLAQINKSEEANKAFSAAVQMHDVLVKAWAMWGDYLENIFVKERQLHLGVSAI
TCYLHACRHQNESKSRKYLAKVLWLLSFDDDKNTLADAVDKYCIGVPPIQWLAWIPQLLT
CLVGSEGKLLLNLISQVGRVYPQAVYFPIRTLYLTLKIEQRERYKSDPGPIRATAPMWRC
SRIMHMQRELHPTLLSSLEGIVDQMVWFRENWHEEVLRQLQQGLAKCYSVAFEKSGAVSD
AKITPHTLNFVKKLVSTFGVGLENVSNVSTMFSSAASESLARRAQATAQDPVFQKLKGQF
TTDFDFSVPGSMKLHNLISKLKKWIKILEAKTKQLPKFFLIEEKCRFLSNFSAQTAEVEI
PGEFLMPKPTHYYIKIARFMPRVEIVQKHNTAARRLYIRGHNGKIYPYLVMNDACLTESR
REERVLQLLRLLNPCLEKRKETTKRHLFFTVPRVVAVSPQMRLVEDNPSSLSLVEIYKQR
CAKKGIEHDNPISRYYDRLATVQARGTQASHQVLRDILKEVQSNMVPRSMLKEWALHTFP
NATDYWTFRKMFTIQLALIGFAEFVLHLNRLNPEMLQIAQDTGKLNVAYFRFDINDATGD
LDANRPVPFRLTPNISEFLTTIGVSGPLTASMIAVARCFAQPNFKVDGILKTVLRDEIIA
WHKKTQEDTSSPLSAAGQPENMDSQQLVSLVQKAVTAIMTRLHNLAQFEGGESKVNTLVA
AANSLDNLCRMDPAWHPWL

Sequence length

3859

Interactions

View interactions

	KEGG		Reactome
	ATP-dependent chromatin remodeling Human T-cell leukemia virus 1 infection		Formation of the beta-catenin:TCF transactivating complex Ub-specific processing proteases

307

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental delay with or without dysmorphic facies and autism	Likely pathogenic; Pathogenic	rs1790257064, rs2116495143, rs2116509105, rs2116411134, rs2484789514, rs2484868235, rs2116512210, rs2484874664, rs1562940289, rs1562957569, rs1562957576, rs1790093579, rs1793524609, rs1791432323, rs1790288810	RCV001329708 RCV001775301 RCV002249192 RCV002250858 RCV002465396 RCV002472193 RCV002795943 RCV003223542 RCV000785653 RCV000785655 RCV000785656 RCV001090026 RCV001252382 RCV001264725 RCV001280855
Global developmental delay	Likely pathogenic	rs2116495128	RCV001255411
Hearing loss, autosomal dominant 75	Likely pathogenic; Pathogenic	rs2484735353, rs1793524609	RCV003883271 RCV002504375
Neurodevelopmental disorder	Likely pathogenic	rs1584324956	RCV000850613
See cases	Likely pathogenic	rs2484868223	RCV003232927
TRRAP-related neurodevelopmental disorder	Likely pathogenic	rs1187165148	RCV001797038

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs7810933, rs73395129, rs62472016, rs140472126	RCV005916834 RCV005917313 RCV005921720 RCV005928630
Cervical cancer	Uncertain significance; Likely benign	rs141778269, rs374134490	RCV005926560 RCV005927512
Cholangiocarcinoma	Benign; Uncertain significance	rs6949344, rs575664213	RCV005925146 RCV005934714
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs7810933, rs62472016	RCV005916839 RCV005921731
Complex neurodevelopmental disorder with or without congenital anomalies	Benign; Likely benign; Uncertain significance	rs199875903, rs1044270109	RCV005362919 RCV005356542
Developmental disorder	Conflicting classifications of pathogenicity; Likely benign	rs139426093, rs577116284, rs2116408599	RCV001843782 RCV001843803 RCV001843816
Familial pancreatic carcinoma	Benign	rs7810933, rs62472016	RCV005916835 RCV005921723
Gastric cancer	Benign	rs62472016, rs116396841	RCV005921726 RCV005926138
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs767472181	RCV005931606
Lung cancer	Benign	rs73395129	RCV005917316
Lymphoma	Benign	rs7810933, rs62472016	RCV005916837 RCV005921727
Malignant lymphoma, large B-cell, diffuse	Benign	rs62472016	RCV005921724
Malignant tumor of esophagus	Benign; Likely benign	rs73395129, rs116396841, rs199875903, rs782179251	RCV005917314 RCV005926137 RCV005926459 RCV005935102
Malignant tumor of urinary bladder	Uncertain significance	rs753395631	RCV005926739
Melanoma	Uncertain significance; Likely benign	rs374891167, rs376638407	RCV005928322 RCV005926581
Ovarian cancer	Benign	rs62472016	RCV005921721
Ovarian serous cystadenocarcinoma	Benign	rs73395140, rs116396841	RCV005921854 RCV005926139
Prostate cancer	Uncertain significance	rs193920828	RCV000149152
Sarcoma	Benign	rs7810933, rs62472016	RCV005916836 RCV005921725
Teratoma	Uncertain significance	rs1792941314	RCV003221372
Thymoma	Benign	rs62472016, rs6949344	RCV005921729 RCV005925145
Thyroid cancer, nonmedullary, 1	Likely benign	rs200514461	RCV005931338
TRAPP-associated developmental delay	Conflicting classifications of pathogenicity	rs1791437854	RCV001250480
TRRAP-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs199541716, rs1474271397, rs2116398727, rs782409632, rs200324989, rs199559167, rs142246393, rs146661901, rs202033080, rs140869162, rs113339948, rs200203849, rs574797700, rs782674362, rs765000508 View all (92 more)	RCV004552002 RCV001825025 RCV001825026 RCV004552014 RCV004553635 RCV004553670 RCV004553708 RCV004553753 RCV004553755 RCV004548237 RCV004548245 RCV004550362 RCV004550393 RCV004550406 RCV004550399 RCV004738677 RCV004738685 RCV004550436 RCV004550423 RCV004550439 RCV004550444 RCV004738720 RCV004738715 RCV004554034 RCV004548324 RCV004548322 RCV004548314 RCV004725319 RCV004548337 RCV004738597 RCV005626680 RCV004548361 RCV004548373 RCV004738620 RCV004548386 RCV004738623 RCV004738624 RCV004738625 RCV004548385 RCV004548395 RCV004548416 RCV004548412 RCV004548424 RCV004738631 RCV004548411 RCV004548414 RCV004548437 RCV004550322 RCV004550347 RCV004553976 RCV004738734 RCV004548609 RCV004548622 RCV004548677 RCV004550785 RCV004550612 RCV004550621 RCV004550635 RCV004552483 RCV004552595 RCV004552606 RCV004552610 RCV004554173 RCV004550608 RCV004552558 RCV004554138 RCV004554140 RCV004554156 RCV004550568 RCV004550695 RCV004554107 RCV004554214 RCV004554215 RCV004554235 RCV004738756 RCV004554254 RCV004554262 RCV004554274 RCV004554294 RCV004554311 RCV004738781 RCV004554326 RCV004548712 RCV004548719 RCV004548790 RCV004550997 RCV004551033 RCV004550809 RCV004550906 RCV004550908 RCV004548818 RCV004552822 RCV004552870 RCV004550957 RCV004550972 RCV004551004 RCV004554356 RCV004554446 RCV004554429 RCV004736690 RCV004738050 RCV004550025 RCV004550029 RCV004551678 RCV004551700 RCV004553436 RCV004553499 RCV004738162
Uterine carcinosarcoma	Benign	rs7810933, rs73395129, rs62472016, rs6949344	RCV005916838 RCV005917315 RCV005921728 RCV005925144
Uterine corpus endometrial carcinoma	Benign	rs62472016	RCV005921730
Uveal melanoma	Benign	rs62472016	RCV005921722

Show/Hide Text Mining Associations (58)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	29327707
Alzheimer Disease	Associate	26059363
Anemia	Associate	28471274, 36103385
Anemia Hemolytic	Associate	24969835
Apraxias	Associate	24969835
Autism Spectrum Disorder	Associate	30827496
Autistic Disorder	Associate	30827496
Bone Diseases	Associate	36103385
Brain Neoplasms	Associate	23612572
Breast Neoplasms	Inhibit	11931763
Calvarial hyperostosis	Associate	24969835
Carcinoid Tumor	Associate	29327707
Carcinoma Hepatocellular	Associate	16434963, 31188495
Carcinoma Renal Cell	Associate	37964489
Cell Transformation Neoplastic	Associate	35244540
Cholangiocarcinoma	Associate	33685460
Colonic Neoplasms	Associate	36180906
Colorectal Neoplasms	Associate	29653964, 33836681, 35244540
Constipation	Associate	24969835, 28471274, 36103385
Death	Associate	30827496
Dementia Multi Infarct	Associate	30827496
Depressive Disorder Major	Associate	30424743
Developmental Disabilities	Associate	28471274
Disease Resistance	Associate	30817817
Embryo Loss	Associate	28392909, 30424743
Episodic Ataxia	Associate	30424743
Facies	Associate	28471274
Genu valgum st Helena familial	Associate	28471274
Growth Disorders	Associate	28471274, 36103385
Hearing Loss	Associate	40004049
Hearing Loss Sensorineural	Associate	40004049
HEM dysplasia	Associate	28471274
Intellectual Disability	Associate	30827496
Learning Disabilities	Associate	30424743
Leukodystrophy Hypomyelinating with Hypodontia and Hypogonadotropic Hypogonadism	Associate	28471274
Lymphoma	Associate	29653964
Lymphoma B Cell Marginal Zone	Associate	24349473
Medulloblastoma	Associate	16618975
Melanoma	Associate	21499247
Mental Disorders	Associate	30424743
Neoplasm Recurrence Local	Associate	34326338
Neoplasms	Associate	19528463, 27664947, 33685460, 34326338
Neuroblastoma	Associate	15778291
Nonsyndromic sensorineural hearing loss	Associate	40004049
Obesity	Associate	19360007
Obsessive Compulsive Disorder	Associate	30424743
Oncogene Addiction	Associate	17233815
Osteosarcoma	Associate	32944406
Pancreatic Neoplasms	Associate	16036106, 17233815
Prostatic Neoplasms	Associate	27701467
Psychotic Disorders	Associate	30424743
Schizophrenia	Associate	30424743
Squamous Cell Carcinoma of Head and Neck	Associate	37373553
Telecanthus	Associate	30827496
Thyroid Cancer Papillary	Associate	36686473
Thyroid Hormone Resistance Syndrome	Associate	24969835, 28471274, 36103385, 36191835, 39299378
Urogenital Abnormalities	Associate	30827496
Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome	Associate	30827496

TRRAP (transformation/transcription domain associated protein)