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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54517
Gene name	Pseudouridine synthase 7
Gene symbol	PUS7
Synonyms (NCBI Gene)	IDDABS
Chromosome	7
Chromosome location	7q22.3

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs752839979	GT>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs765326959	CT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs772282094	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1444559235	C>A,T	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs1562818383	CAGT>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1586169255	C>T	Likely-pathogenic	Splice donor variant

Show/Hide all (67)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020676	hsa-miR-155-5p	Proteomics	18668040
MIRT025413	hsa-miR-34a-5p	Proteomics	21566225
MIRT028331	hsa-miR-32-5p	Sequencing	20371350
MIRT029255	hsa-miR-26b-5p	Microarray	19088304
MIRT041035	hsa-miR-505-3p	CLASH	23622248
MIRT1277989	hsa-miR-1228	CLIP-seq
MIRT1277990	hsa-miR-155	CLIP-seq
MIRT1277991	hsa-miR-3140-5p	CLIP-seq
MIRT1277992	hsa-miR-3177-5p	CLIP-seq
MIRT1277993	hsa-miR-3186-5p	CLIP-seq
MIRT1277994	hsa-miR-323-5p	CLIP-seq
MIRT1277995	hsa-miR-325	CLIP-seq
MIRT1277996	hsa-miR-377	CLIP-seq
MIRT1277997	hsa-miR-3919	CLIP-seq
MIRT1277998	hsa-miR-4327	CLIP-seq
MIRT1277999	hsa-miR-4466	CLIP-seq
MIRT1278000	hsa-miR-4775	CLIP-seq
MIRT1278001	hsa-miR-4783-5p	CLIP-seq
MIRT1278002	hsa-miR-491-3p	CLIP-seq
MIRT1278003	hsa-miR-520d-5p	CLIP-seq
MIRT1278004	hsa-miR-524-5p	CLIP-seq
MIRT1278005	hsa-miR-556-3p	CLIP-seq
MIRT1278006	hsa-miR-581	CLIP-seq
MIRT1278007	hsa-miR-590-3p	CLIP-seq
MIRT1278008	hsa-miR-628-3p	CLIP-seq
MIRT1278009	hsa-miR-675	CLIP-seq
MIRT1278010	hsa-miR-876-3p	CLIP-seq
MIRT2081809	hsa-miR-1183	CLIP-seq
MIRT1277992	hsa-miR-3177-5p	CLIP-seq
MIRT2081810	hsa-miR-3929	CLIP-seq
MIRT2081811	hsa-miR-4419b	CLIP-seq
MIRT2081812	hsa-miR-4478	CLIP-seq
MIRT2081813	hsa-miR-4742-3p	CLIP-seq
MIRT2081814	hsa-miR-485-5p	CLIP-seq
MIRT2081815	hsa-miR-944	CLIP-seq
MIRT2081809	hsa-miR-1183	CLIP-seq
MIRT2307585	hsa-miR-1278	CLIP-seq
MIRT2307586	hsa-miR-1293	CLIP-seq
MIRT2307587	hsa-miR-1911	CLIP-seq
MIRT2307588	hsa-miR-371-5p	CLIP-seq
MIRT2307589	hsa-miR-371b-5p	CLIP-seq
MIRT2307590	hsa-miR-3910	CLIP-seq
MIRT2081810	hsa-miR-3929	CLIP-seq
MIRT2307591	hsa-miR-4265	CLIP-seq
MIRT2307592	hsa-miR-4296	CLIP-seq
MIRT2307593	hsa-miR-4310	CLIP-seq
MIRT2307594	hsa-miR-4322	CLIP-seq
MIRT2081811	hsa-miR-4419b	CLIP-seq
MIRT2081812	hsa-miR-4478	CLIP-seq
MIRT2307595	hsa-miR-4483	CLIP-seq
MIRT2307596	hsa-miR-4660	CLIP-seq
MIRT2081813	hsa-miR-4742-3p	CLIP-seq
MIRT2307597	hsa-miR-4795-3p	CLIP-seq
MIRT2081814	hsa-miR-485-5p	CLIP-seq
MIRT2307598	hsa-miR-885-3p	CLIP-seq
MIRT2457487	hsa-miR-1283	CLIP-seq
MIRT2457488	hsa-miR-3613-3p	CLIP-seq
MIRT2457489	hsa-miR-4684-5p	CLIP-seq
MIRT2457487	hsa-miR-1283	CLIP-seq
MIRT2457488	hsa-miR-3613-3p	CLIP-seq
MIRT2457489	hsa-miR-4684-5p	CLIP-seq
MIRT2457487	hsa-miR-1283	CLIP-seq
MIRT2457488	hsa-miR-3613-3p	CLIP-seq
MIRT2605050	hsa-miR-4421	CLIP-seq
MIRT2457489	hsa-miR-4684-5p	CLIP-seq
MIRT2605051	hsa-miR-548c-3p	CLIP-seq
MIRT2605050	hsa-miR-4421	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001522	Process	Pseudouridine synthesis	IBA
GO:0001522	Process	Pseudouridine synthesis	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	35144859
GO:0005634	Component	Nucleus	IDA	29628141
GO:0005634	Component	Nucleus	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0008033	Process	TRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0009451	Process	RNA modification	IEA
GO:0009982	Function	Pseudouridine synthase activity	IBA
GO:0009982	Function	Pseudouridine synthase activity	IDA	29628141, 31477916, 35051350
GO:0009982	Function	Pseudouridine synthase activity	IEA
GO:0009982	Function	Pseudouridine synthase activity	IMP	28073919
GO:0016853	Function	Isomerase activity	IEA
GO:0017148	Process	Negative regulation of translation	IDA	29628141
GO:0017148	Process	Negative regulation of translation	IMP	35144859
GO:0019899	Function	Enzyme binding	IPI	23382074
GO:0031119	Process	TRNA pseudouridine synthesis	IDA	29628141, 34718722
GO:0106029	Function	TRNA pseudouridine synthase activity	IEA
GO:0160150	Function	TRNA pseudouridine(13) synthase activity	IDA	34718722
GO:0160150	Function	TRNA pseudouridine(13) synthase activity	IEA
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	IMP	29628141
GO:1990481	Process	MRNA pseudouridine synthesis	IDA	31477916, 35051350
GO:1990481	Process	MRNA pseudouridine synthesis	IMP	28073919
GO:2000380	Process	Regulation of mesoderm development	IMP	29628141

MIM	HGNC	e!Ensembl
616261	26033	ENSG00000091127

Q96PZ0

Protein name

Pseudouridylate synthase 7 homolog (EC 5.4.99.-)

Protein function

Pseudouridylate synthase that catalyzes pseudouridylation of RNAs (PubMed:28073919, PubMed:29628141, PubMed:30778726, PubMed:31477916, PubMed:34718722, PubMed:35051350). Acts as a regulator of protein synthesis in embryonic stem cells by mediati

PDB

5KKP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01142	TruD	240 → 642	tRNA pseudouridine synthase D (TruD)	Family

Sequence

MEMTEMTGVSLKRGALVVEDNDSGVPVEETKKQKLSECSLTKGQDGLQNDFLSISEDVPR
PPDTVSTGKGGKNSEAQLEDEEEEEEDGLSEECEEEESESFADMMKHGLTEADVGITKFV
SSHQGFSGILKERYSDFVVHEIGKDGRISHLNDLSIPVDEEDPSEDIFTVLTAEEKQRLE
ELQLFKNKETSVAIEVIEDTKEKRTIIHQAIKSLFPGLETKTEDREGKKYIVAYHAAGKK
ALANPRKHSWPKSRGSYCHFVLYKENKDTMDAINVLSKYLRVKPNIFSYMGTKDKRAITV
QEIAVLKITAQRLAHLNKCLMNFKLGNFSYQKNPLKLGELQGNHFTVVLRNITGTDDQVQ
QAMNSLKEIGFINYYGMQRFGTTAVPTYQVGRAILQNSWTEVMDLILKPRSGAEKGYLVK
CREEWAKTKDPTAALRKLPVKRCVEGQLLRGLSKYGMKNIVSAFGIIPRNNRLMYIHSYQ
SYVWNNMVSKRIEDYGLKPVPGDLVLKGATATYIEEDDVNNYSIHDVVMPLPGFDVIYPK
HKIQEAYREMLTADNLDIDNMRHKIRDYSLSGAYRKIIIRPQNVSWEVVAYDDPKIPLFN
TDVDNLEGKTPPVFASEGKYRALKMDFSLPPSTYATMAIREVLKMDTSIKNQTQLNTTWL
R

Sequence length

661

Interactions

View interactions

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	Likely pathogenic; Pathogenic	rs769379928, rs2133254783, rs2133076941, rs2484882987, rs761121419, rs2484846964, rs1456834829, rs2484922041, rs752839979, rs772282094, rs1444559235, rs1562818383, rs765326959	RCV001375942 RCV001375943 RCV001542759 RCV002464982 RCV005254723 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pervasive developmental disorder	Pathogenic	rs2484882987	RCV002464982	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PUS7-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (21)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autism Spectrum Disorder	Autism	Pubtator	35144859	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	GENOMICS_ENGLAND_DG	30526862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	25219674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30778726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	30778726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	35144859	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30526862, 30778726, 31451225		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	30526862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30778726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	30526862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	30778726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	30778726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-specific syndromic intellectual disability	Syndromic Mental Retardation	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Speech Delay	Speech Delay	BEFREE	30526862		★★★★★ ★☆☆☆☆ Found in Text Mining only

PUS7 (pseudouridine synthase 7)