UPF1 (UPF1 RNA helicase and ATPase)

Gene

• Entrez ID: 5976
• Gene name: UPF1 RNA helicase and ATPase
• Gene symbol: UPF1
• Synonyms (NCBI Gene): HUPF1, NORF1, RENT1, UTF, pNORF1, smg-2
• Chromosome: 19
• Chromosome location: 19p13.11
• Summary: This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA d

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048857	hsa-miR-93-5p	CLASH	23622248
MIRT042554	hsa-miR-423-3p	CLASH	23622248
MIRT448331	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT448330	hsa-miR-483-3p	PAR-CLIP	22100165
MIRT448329	hsa-miR-4635	PAR-CLIP	22100165
MIRT448331	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT448330	hsa-miR-483-3p	PAR-CLIP	22100165
MIRT448329	hsa-miR-4635	PAR-CLIP	22100165
MIRT448331	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT448330	hsa-miR-483-3p	PAR-CLIP	22100165
MIRT448329	hsa-miR-4635	PAR-CLIP	22100165
MIRT448331	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT448330	hsa-miR-483-3p	PAR-CLIP	22100165
MIRT448329	hsa-miR-4635	PAR-CLIP	22100165
MIRT1476059	hsa-miR-1263	CLIP-seq
MIRT1476060	hsa-miR-127-3p	CLIP-seq
MIRT1476061	hsa-miR-128	CLIP-seq
MIRT1476062	hsa-miR-1291	CLIP-seq
MIRT1476063	hsa-miR-1323	CLIP-seq
MIRT1476064	hsa-miR-1343	CLIP-seq
MIRT1476065	hsa-miR-1468	CLIP-seq
MIRT1476066	hsa-miR-150	CLIP-seq
MIRT1476067	hsa-miR-1539	CLIP-seq
MIRT1476068	hsa-miR-1587	CLIP-seq
MIRT1476069	hsa-miR-187	CLIP-seq
MIRT1476070	hsa-miR-208a	CLIP-seq
MIRT1476071	hsa-miR-208b	CLIP-seq
MIRT1476072	hsa-miR-2278	CLIP-seq
MIRT1476073	hsa-miR-3074-5p	CLIP-seq
MIRT1476074	hsa-miR-3133	CLIP-seq
MIRT1476075	hsa-miR-3144-5p	CLIP-seq
MIRT1476076	hsa-miR-3148	CLIP-seq
MIRT1476077	hsa-miR-3154	CLIP-seq
MIRT1476078	hsa-miR-3173-5p	CLIP-seq
MIRT1476079	hsa-miR-3179	CLIP-seq
MIRT1476080	hsa-miR-3185	CLIP-seq
MIRT1476081	hsa-miR-3191	CLIP-seq
MIRT1476082	hsa-miR-3195	CLIP-seq
MIRT1476083	hsa-miR-3605-3p	CLIP-seq
MIRT1476084	hsa-miR-3667-3p	CLIP-seq
MIRT1476085	hsa-miR-3668	CLIP-seq
MIRT1476086	hsa-miR-3689d	CLIP-seq
MIRT1476087	hsa-miR-370	CLIP-seq
MIRT1476088	hsa-miR-3713	CLIP-seq
MIRT1476089	hsa-miR-3907	CLIP-seq
MIRT1476090	hsa-miR-3908	CLIP-seq
MIRT1476091	hsa-miR-3944-5p	CLIP-seq
MIRT1476092	hsa-miR-3977	CLIP-seq
MIRT1476093	hsa-miR-425	CLIP-seq
MIRT1476094	hsa-miR-4274	CLIP-seq
MIRT1476095	hsa-miR-4303	CLIP-seq
MIRT1476096	hsa-miR-4312	CLIP-seq
MIRT1476097	hsa-miR-4317	CLIP-seq
MIRT1476098	hsa-miR-4328	CLIP-seq
MIRT1476099	hsa-miR-4453	CLIP-seq
MIRT1476100	hsa-miR-4466	CLIP-seq
MIRT1476101	hsa-miR-4477a	CLIP-seq
MIRT1476102	hsa-miR-4504	CLIP-seq
MIRT1476103	hsa-miR-4511	CLIP-seq
MIRT1476104	hsa-miR-4514	CLIP-seq
MIRT1476105	hsa-miR-4519	CLIP-seq
MIRT1476106	hsa-miR-452	CLIP-seq
MIRT1476107	hsa-miR-4524	CLIP-seq
MIRT1476108	hsa-miR-4538	CLIP-seq
MIRT1476109	hsa-miR-4639-5p	CLIP-seq
MIRT1476110	hsa-miR-4645-5p	CLIP-seq
MIRT1476111	hsa-miR-4652-5p	CLIP-seq
MIRT1476112	hsa-miR-4667-5p	CLIP-seq
MIRT1476113	hsa-miR-4673	CLIP-seq
MIRT1476114	hsa-miR-4674	CLIP-seq
MIRT1476115	hsa-miR-4676-3p	CLIP-seq
MIRT1476116	hsa-miR-4682	CLIP-seq
MIRT1476117	hsa-miR-4692	CLIP-seq
MIRT1476118	hsa-miR-4700-5p	CLIP-seq
MIRT1476119	hsa-miR-4706	CLIP-seq
MIRT1476120	hsa-miR-4749-5p	CLIP-seq
MIRT1476121	hsa-miR-4755-3p	CLIP-seq
MIRT1476122	hsa-miR-4772-5p	CLIP-seq
MIRT1476123	hsa-miR-4800-3p	CLIP-seq
MIRT1476124	hsa-miR-516b	CLIP-seq
MIRT1476125	hsa-miR-548a-3p	CLIP-seq
MIRT1476126	hsa-miR-548e	CLIP-seq
MIRT1476127	hsa-miR-548f	CLIP-seq
MIRT1476128	hsa-miR-548g	CLIP-seq
MIRT1476129	hsa-miR-548o	CLIP-seq
MIRT1476130	hsa-miR-570	CLIP-seq
MIRT1476131	hsa-miR-634	CLIP-seq
MIRT1476132	hsa-miR-645	CLIP-seq
MIRT1476133	hsa-miR-646	CLIP-seq
MIRT1476134	hsa-miR-675	CLIP-seq
MIRT1476135	hsa-miR-744	CLIP-seq
MIRT1476136	hsa-miR-889	CLIP-seq
MIRT1555346	hsa-miR-4726-3p	CLIP-seq
MIRT2143431	hsa-miR-1178	CLIP-seq
MIRT1476060	hsa-miR-127-3p	CLIP-seq
MIRT1476061	hsa-miR-128	CLIP-seq
MIRT2143432	hsa-miR-1307	CLIP-seq
MIRT1476064	hsa-miR-1343	CLIP-seq
MIRT1476065	hsa-miR-1468	CLIP-seq
MIRT2143433	hsa-miR-1913	CLIP-seq
MIRT2143434	hsa-miR-1914	CLIP-seq
MIRT2143435	hsa-miR-1972	CLIP-seq
MIRT1476070	hsa-miR-208a	CLIP-seq
MIRT1476071	hsa-miR-208b	CLIP-seq
MIRT2143436	hsa-miR-210	CLIP-seq
MIRT2143437	hsa-miR-2114	CLIP-seq
MIRT2143438	hsa-miR-2277-3p	CLIP-seq
MIRT1476073	hsa-miR-3074-5p	CLIP-seq
MIRT2143439	hsa-miR-3127-3p	CLIP-seq
MIRT2143440	hsa-miR-3127-5p	CLIP-seq
MIRT1476075	hsa-miR-3144-5p	CLIP-seq
MIRT1476076	hsa-miR-3148	CLIP-seq
MIRT2143441	hsa-miR-3155	CLIP-seq
MIRT2143442	hsa-miR-3155b	CLIP-seq
MIRT1476081	hsa-miR-3191	CLIP-seq
MIRT2143443	hsa-miR-324-3p	CLIP-seq
MIRT2143444	hsa-miR-342-3p	CLIP-seq
MIRT2143445	hsa-miR-3648	CLIP-seq
MIRT1476084	hsa-miR-3667-3p	CLIP-seq
MIRT1476085	hsa-miR-3668	CLIP-seq
MIRT1476087	hsa-miR-370	CLIP-seq
MIRT1476088	hsa-miR-3713	CLIP-seq
MIRT2143446	hsa-miR-377	CLIP-seq
MIRT1476089	hsa-miR-3907	CLIP-seq
MIRT2143447	hsa-miR-3918	CLIP-seq
MIRT2143448	hsa-miR-3925-3p	CLIP-seq
MIRT2143449	hsa-miR-3934	CLIP-seq
MIRT1476092	hsa-miR-3977	CLIP-seq
MIRT2143450	hsa-miR-4252	CLIP-seq
MIRT2143451	hsa-miR-4268	CLIP-seq
MIRT1476094	hsa-miR-4274	CLIP-seq
MIRT2143452	hsa-miR-4287	CLIP-seq
MIRT2143453	hsa-miR-4323	CLIP-seq
MIRT1476098	hsa-miR-4328	CLIP-seq
MIRT2143454	hsa-miR-4448	CLIP-seq
MIRT2143455	hsa-miR-4469	CLIP-seq
MIRT1476105	hsa-miR-4519	CLIP-seq
MIRT1476107	hsa-miR-4524	CLIP-seq
MIRT1476109	hsa-miR-4639-5p	CLIP-seq
MIRT2143456	hsa-miR-4640-5p	CLIP-seq
MIRT1476110	hsa-miR-4645-5p	CLIP-seq
MIRT2143457	hsa-miR-4650-5p	CLIP-seq
MIRT1476111	hsa-miR-4652-5p	CLIP-seq
MIRT1476112	hsa-miR-4667-5p	CLIP-seq
MIRT1476113	hsa-miR-4673	CLIP-seq
MIRT2143458	hsa-miR-4685-3p	CLIP-seq
MIRT1476118	hsa-miR-4700-5p	CLIP-seq
MIRT2143459	hsa-miR-4705	CLIP-seq
MIRT2143460	hsa-miR-4712-5p	CLIP-seq
MIRT2143461	hsa-miR-4722-3p	CLIP-seq
MIRT2143462	hsa-miR-4726-5p	CLIP-seq
MIRT2143463	hsa-miR-4767	CLIP-seq
MIRT1476122	hsa-miR-4772-5p	CLIP-seq
MIRT1476123	hsa-miR-4800-3p	CLIP-seq
MIRT2143464	hsa-miR-484	CLIP-seq
MIRT2143465	hsa-miR-511	CLIP-seq
MIRT2143466	hsa-miR-515-5p	CLIP-seq
MIRT1476124	hsa-miR-516b	CLIP-seq
MIRT2143467	hsa-miR-542-3p	CLIP-seq
MIRT2143468	hsa-miR-548aa	CLIP-seq
MIRT2143469	hsa-miR-552	CLIP-seq
MIRT1476130	hsa-miR-570	CLIP-seq
MIRT2143470	hsa-miR-626	CLIP-seq
MIRT2143471	hsa-miR-671-5p	CLIP-seq
MIRT2143472	hsa-miR-766	CLIP-seq
MIRT2143473	hsa-miR-767-3p	CLIP-seq
MIRT2143474	hsa-miR-770-5p	CLIP-seq
MIRT2143475	hsa-miR-942	CLIP-seq
MIRT2363657	hsa-miR-1207-5p	CLIP-seq
MIRT2363658	hsa-miR-1252	CLIP-seq
MIRT2363659	hsa-miR-1283	CLIP-seq
MIRT1476070	hsa-miR-208a	CLIP-seq
MIRT1476071	hsa-miR-208b	CLIP-seq
MIRT2143437	hsa-miR-2114	CLIP-seq
MIRT2363660	hsa-miR-221	CLIP-seq
MIRT2363661	hsa-miR-222	CLIP-seq
MIRT1476073	hsa-miR-3074-5p	CLIP-seq
MIRT2363662	hsa-miR-3135b	CLIP-seq
MIRT2363663	hsa-miR-3199	CLIP-seq
MIRT2363664	hsa-miR-320a	CLIP-seq
MIRT2363665	hsa-miR-320b	CLIP-seq
MIRT2363666	hsa-miR-320c	CLIP-seq
MIRT2363667	hsa-miR-320d	CLIP-seq
MIRT2363668	hsa-miR-320e	CLIP-seq
MIRT2143445	hsa-miR-3648	CLIP-seq
MIRT1476085	hsa-miR-3668	CLIP-seq
MIRT2363669	hsa-miR-3675-5p	CLIP-seq
MIRT1476087	hsa-miR-370	CLIP-seq
MIRT2363670	hsa-miR-3922-5p	CLIP-seq
MIRT2143451	hsa-miR-4268	CLIP-seq
MIRT2363671	hsa-miR-4429	CLIP-seq
MIRT2363672	hsa-miR-4434	CLIP-seq
MIRT2143454	hsa-miR-4448	CLIP-seq
MIRT2363673	hsa-miR-4516	CLIP-seq
MIRT2363674	hsa-miR-4530	CLIP-seq
MIRT2363675	hsa-miR-4531	CLIP-seq
MIRT1476109	hsa-miR-4639-5p	CLIP-seq
MIRT2363676	hsa-miR-4690-3p	CLIP-seq
MIRT2143461	hsa-miR-4722-3p	CLIP-seq
MIRT2363677	hsa-miR-4763-3p	CLIP-seq
MIRT2363678	hsa-miR-486-3p	CLIP-seq
MIRT2363679	hsa-miR-520d-5p	CLIP-seq
MIRT2363680	hsa-miR-524-5p	CLIP-seq
MIRT2363681	hsa-miR-548v	CLIP-seq
MIRT2363657	hsa-miR-1207-5p	CLIP-seq
MIRT2143445	hsa-miR-3648	CLIP-seq
MIRT2363669	hsa-miR-3675-5p	CLIP-seq
MIRT2363674	hsa-miR-4530	CLIP-seq
MIRT2363677	hsa-miR-4763-3p	CLIP-seq
MIRT2363678	hsa-miR-486-3p	CLIP-seq
MIRT2363676	hsa-miR-4690-3p	CLIP-seq
MIRT2657243	hsa-miR-1910	CLIP-seq
MIRT2143437	hsa-miR-2114	CLIP-seq
MIRT2657244	hsa-miR-2467-3p	CLIP-seq
MIRT2657245	hsa-miR-3184	CLIP-seq
MIRT2143446	hsa-miR-377	CLIP-seq
MIRT2657246	hsa-miR-423-5p	CLIP-seq
MIRT2657247	hsa-miR-4264	CLIP-seq
MIRT2657248	hsa-miR-4492	CLIP-seq
MIRT2657249	hsa-miR-4498	CLIP-seq
MIRT2657250	hsa-miR-4505	CLIP-seq
MIRT2657251	hsa-miR-455-3p	CLIP-seq
MIRT2657252	hsa-miR-4660	CLIP-seq
MIRT2657253	hsa-miR-4731-5p	CLIP-seq
MIRT1476121	hsa-miR-4755-3p	CLIP-seq
MIRT2363678	hsa-miR-486-3p	CLIP-seq
MIRT2657254	hsa-miR-762	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SMG6	Unknown	25053839
UPF2	Unknown	19095803

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IBA
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IDA	17468741
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	18369367
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	NAS	10999600
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS	8855285, 26255671
GO:0000781	Component	Chromosome, telomeric region	IDA	21829167
GO:0000785	Component	Chromatin	IDA	16488880
GO:0000932	Component	P-body	IEA
GO:0000956	Process	Nuclear-transcribed mRNA catabolic process	IMP	23828042
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	16488880
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	IDA	24726324
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	NAS	10999600
GO:0003724	Function	RNA helicase activity	IBA
GO:0003724	Function	RNA helicase activity	IDA	12554878, 21419344
GO:0003724	Function	RNA helicase activity	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0004386	Function	Helicase activity	NAS	9064659
GO:0005515	Function	Protein binding	IPI	9620853, 11163187, 11544179, 12417715, 12881429, 14636577, 15680326, 16086026, 16364915, 16452507, 16488880, 16601204, 17468741, 17469741, 17932509, 18066079, 18256688, 18362360, 18423202, 18447585, 19150429, 19417104, 19478851, 19503078, 19556969, 19864460, 20930030, 21145460, 2182
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	18362360
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	9064659
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006260	Process	DNA replication	IMP	16488880
GO:0006281	Process	DNA repair	IDA	16488880
GO:0006406	Process	MRNA export from nucleus	TAS	16488880
GO:0006449	Process	Regulation of translational termination	IMP	9620853
GO:0006449	Process	Regulation of translational termination	NAS	10999600
GO:0008270	Function	Zinc ion binding	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	30218034
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0032201	Process	Telomere maintenance via semi-conservative replication	IDA	21829167
GO:0032204	Process	Regulation of telomere maintenance	IMP	17916692
GO:0035145	Component	Exon-exon junction complex	IDA	16601204
GO:0036121	Function	Double-stranded DNA helicase activity	IDA	30218034
GO:0042162	Function	Telomeric DNA binding	IDA	17916692, 21829167
GO:0044530	Component	Supraspliceosomal complex	IDA	18362360
GO:0044770	Process	Cell cycle phase transition	IMP	16488880
GO:0044877	Function	Protein-containing complex binding	IPI	26841701
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0061014	Process	Positive regulation of mRNA catabolic process	IDA	24726324
GO:0061014	Process	Positive regulation of mRNA catabolic process	IMP	25225333
GO:0061158	Process	3'-UTR-mediated mRNA destabilization	IDA	24726324
GO:0061158	Process	3'-UTR-mediated mRNA destabilization	TAS	26255671
GO:0071044	Process	Histone mRNA catabolic process	IMP	16086026
GO:0071222	Process	Cellular response to lipopolysaccharide	TAS	26255671
GO:0071347	Process	Cellular response to interleukin-1	TAS	26255671
GO:1903313	Process	Positive regulation of mRNA metabolic process	IEA
GO:1905746	Process	Positive regulation of mRNA cis splicing, via spliceosome	IEA

Other IDs

• MIM: 601430
• HGNC: 9962
• e!Ensembl: ENSG00000005007

Protein

• UniProt ID: Q92900
• Protein name: Regulator of nonsense transcripts 1 (EC 3.6.4.12) (EC 3.6.4.13) (ATP-dependent helicase RENT1) (Nonsense mRNA reducing factor 1) (NORF1) (Up-frameshift suppressor 1 homolog) (hUpf1)
• Protein function: RNA-dependent helicase required for nonsense-mediated decay (NMD) of aberrant mRNAs containing premature stop codons and modulates the expression level of normal mRNAs (PubMed:11163187, PubMed:16086026, PubMed:18172165, PubMed:21145460, PubMed:2
• PDB: 2GJK, 2GK6, 2GK7, 2IYK, 2WJV, 2WJY, 2XZO, 2XZP, 6EJ5, 6Z3R, 8RXB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09416	UPF1_Zn_bind	121 → 272	RNA helicase (UPF2 interacting domain)	Domain
  PF18141	DUF5599	324 → 425	Domain of unknown function (DUF5599)	Domain
  PF13086	AAA_11	481 → 605	AAA domain	Domain
  PF13086	AAA_11	576 → 684	AAA domain	Domain
  PF13087	AAA_12	691 → 888	AAA domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MSVEAYGPSSQTLTFLDTEEAELLGADTQGSEFEFTDFTLPSQTQTPPGGPGGPGGGGAG
  GPGGAGAGAAAGQLDAQVGPEGILQNGAVDDSVAKTSQLLAELNFEEDEEDTYYTKDLPI
  HACSYCGIHDPACVVYCNTSKKWFCNGRGNTSGSHIVNHLVRAKCKEVTLHKDGPLGETV
  LECYNCGCRNVFLLGFIPAKADSVVVLLCRQPCASQSSLKDINWDSSQWQPLIQDRCFLS
  WLVKIPSEQEQLRARQITAQQINKLEELWKENPSATLEDLEKPGVDEEPQHVLLRYEDAY
  QYQNIFGPLVKLEADYDKKLKESQTQDNITVRWDLGLNKKRIAYFTLPKTDSGNEDLVII
  WLRDMRLMQGDEICLRYKGDLAPLWKGIGHVIKVPDNYGDEIAIELRSSVGAPVEVTHNF
  QVDFVWKSTSFDRMQSALKTFAVDETSVSGYIYHKLLGHEVEDVIIKCQLPKRFTAQGLP
  DLNHSQVYAVKTVLQRPLSLIQGPPGTGKTVTSATIVYHLARQGNGPVLVCAPSNIAVDQ
  LTEKIHQTGLKVVRLCAKSREAIDSPVSFLALHNQIRNMDSMPELQKLQQLKDETGELSS
  ADEKRYRALKRTAERELLMNADVICCTCVGAGDPRLAKMQFRSILIDESTQATEPECMVP
  VVLGAKQLILVGDHCQLGPVVMCKKAAKAGLSQSLFERLVVLGIRPIRLQVQYRMHPALS
  AFPSNIFYEGSLQNGVTAADRVKKGFDFQWPQPDKPMFFYVTQGQEEIASSGTSYLNRTE
  AANVEKITTKLLKAGAKPDQIGIITPYEGQRSYLVQYMQFSGSLHTKLYQEVEIASVDAF
  QGREKDFIILSCVRANEHQGIGFLNDPRRLNVALTRARYGVIIVGNPKALSKQPLWNHLL
  NYYKEQKVLVEGPLNNLRESLMQFSKPRKLVNTINPGARFMTTAMYDAREAIIPGSVYDR
  SSQGRPSSMYFQTHDQIGMISAGPSHVAAMNIPIPFNLVMPPMPPPGYFGQANGPAAGRG
  TPKGKTGRGGRQKNRFGLPGPSQTNLPNSQASQDVASQPFSQGALTQGYISMSQPSQMSQ
  PGLSQPELSQDSYLGDEFKSQIDVALSQDSTYQGERAYQHGGVTGLSQY

• Sequence length: 1129

Pathways

KEGG:

Nucleocytoplasmic transport
mRNA surveillance pathway

Reactome:

Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Intellectual disability	Likely pathogenic	rs2055786277	RCV001195713	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC BEHAVIOR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIGHT ATRIAL ISOMERISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STRABISMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSPOSITION OF GREAT VESSELS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPF1-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	25354681		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	26056265	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	LHGDN	16086026		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	28821679		★☆☆☆☆ Found in Text Mining only
Bethlem myopathy	Bethlem myopathy	Pubtator	16807116	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34021129, 34939866, 35318304	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	23881279		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30628676, 31040354	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31264769, 35338348, 38013127	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25520033		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36421841	Associate	★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	BEFREE	30689859		★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	Pubtator	30689859	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29959727		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18612427, 31253658		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18612427, 34939866	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34021129	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35318304	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	28128343		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31427569		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31427569		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31427569, 31696483, 31799670		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31696483, 31799670	Associate	★☆☆☆☆ Found in Text Mining only
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	BEFREE	28549954		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	28539120	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Neoplasms	Kidney neoplasm	Pubtator	36421841	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26759305, 27702662, 28554132, 29510736, 30628676, 31040354, 31264769		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	21035456	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	27348585	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37167719	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34939866	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25520033		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23881279		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28942451		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23881279, 28554132, 31718065, 31819156		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	30401782		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18427545, 18612427, 23881279, 26759305, 28554132, 30628676, 30662328, 31799670		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	30401782	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31858532	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23881279		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	30628676		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28128343		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28942451		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18427545		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28942451	Associate	★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	29764417	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	31858555	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	29959727		★☆☆☆☆ Found in Text Mining only
Ullrich congenital muscular dystrophy 1	Ullrich Congenital Muscular Dystrophy	BEFREE	16807116		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28827400	Associate	★☆☆☆☆ Found in Text Mining only