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	54870
Gene name	Glutamine rich 1
Gene symbol	QRICH1
Synonyms (NCBI Gene)	AB-DIPVERBRAS
Chromosome	3
Chromosome location	3p21.31

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1236702036	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1376687924	AGAG>-,AG	Pathogenic	Coding sequence variant, frameshift variant
rs1553738605	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1553747119	GC>AA	Pathogenic	Stop gained, coding sequence variant
rs1559930732	G>A	Pathogenic	Stop gained, coding sequence variant
rs1559931177	G>A	Pathogenic	Stop gained, coding sequence variant
rs1575373920	->C	Pathogenic	Frameshift variant, coding sequence variant

158

Show/Hide all (158)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020536	hsa-miR-155-5p	Proteomics	18668040
MIRT046431	hsa-miR-15b-5p	CLASH	23622248
MIRT045047	hsa-miR-186-5p	CLASH	23622248
MIRT439849	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439849	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1280085	hsa-miR-3157-5p	CLIP-seq
MIRT1280086	hsa-miR-3613-3p	CLIP-seq
MIRT1280087	hsa-miR-4691-3p	CLIP-seq
MIRT1280088	hsa-miR-891b	CLIP-seq
MIRT1280089	hsa-miR-1258	CLIP-seq
MIRT1280090	hsa-miR-128	CLIP-seq
MIRT1280091	hsa-miR-129-3p	CLIP-seq
MIRT1280092	hsa-miR-1295	CLIP-seq
MIRT1280093	hsa-miR-1912	CLIP-seq
MIRT1280094	hsa-miR-214	CLIP-seq
MIRT1280095	hsa-miR-2355-5p	CLIP-seq
MIRT1280096	hsa-miR-27a	CLIP-seq
MIRT1280097	hsa-miR-27b	CLIP-seq
MIRT1280098	hsa-miR-3065-5p	CLIP-seq
MIRT1280099	hsa-miR-3117-5p	CLIP-seq
MIRT1280100	hsa-miR-3133	CLIP-seq
MIRT1280101	hsa-miR-3150b-3p	CLIP-seq
MIRT1280102	hsa-miR-3173-3p	CLIP-seq
MIRT1280103	hsa-miR-3185	CLIP-seq
MIRT1280104	hsa-miR-346	CLIP-seq
MIRT1280086	hsa-miR-3613-3p	CLIP-seq
MIRT1280105	hsa-miR-3614-5p	CLIP-seq
MIRT1280106	hsa-miR-3619-5p	CLIP-seq
MIRT1280107	hsa-miR-3662	CLIP-seq
MIRT1280108	hsa-miR-3679-3p	CLIP-seq
MIRT1280109	hsa-miR-425	CLIP-seq
MIRT1280110	hsa-miR-4269	CLIP-seq
MIRT1280111	hsa-miR-4294	CLIP-seq
MIRT1280112	hsa-miR-4477b	CLIP-seq
MIRT1280113	hsa-miR-4496	CLIP-seq
MIRT1280114	hsa-miR-4514	CLIP-seq
MIRT1280115	hsa-miR-455-3p	CLIP-seq
MIRT1280116	hsa-miR-4689	CLIP-seq
MIRT1280117	hsa-miR-4692	CLIP-seq
MIRT1280118	hsa-miR-4699-5p	CLIP-seq
MIRT1280119	hsa-miR-4717-5p	CLIP-seq
MIRT1280120	hsa-miR-4742-5p	CLIP-seq
MIRT1280121	hsa-miR-4753-5p	CLIP-seq
MIRT1280122	hsa-miR-4779	CLIP-seq
MIRT1280123	hsa-miR-4784	CLIP-seq
MIRT1280124	hsa-miR-5096	CLIP-seq
MIRT1280125	hsa-miR-513a-5p	CLIP-seq
MIRT1280126	hsa-miR-518a-5p	CLIP-seq
MIRT1280127	hsa-miR-527	CLIP-seq
MIRT1280128	hsa-miR-561	CLIP-seq
MIRT1280129	hsa-miR-657	CLIP-seq
MIRT1280130	hsa-miR-668	CLIP-seq
MIRT1280131	hsa-miR-761	CLIP-seq
MIRT1280093	hsa-miR-1912	CLIP-seq
MIRT1280094	hsa-miR-214	CLIP-seq
MIRT1280099	hsa-miR-3117-5p	CLIP-seq
MIRT1280101	hsa-miR-3150b-3p	CLIP-seq
MIRT1280104	hsa-miR-346	CLIP-seq
MIRT1280106	hsa-miR-3619-5p	CLIP-seq
MIRT2082635	hsa-miR-3688-3p	CLIP-seq
MIRT2082636	hsa-miR-3978	CLIP-seq
MIRT1280109	hsa-miR-425	CLIP-seq
MIRT1280111	hsa-miR-4294	CLIP-seq
MIRT2082637	hsa-miR-4426	CLIP-seq
MIRT1280113	hsa-miR-4496	CLIP-seq
MIRT2082638	hsa-miR-4635	CLIP-seq
MIRT2082639	hsa-miR-4647	CLIP-seq
MIRT2082640	hsa-miR-4662b	CLIP-seq
MIRT1280116	hsa-miR-4689	CLIP-seq
MIRT1280118	hsa-miR-4699-5p	CLIP-seq
MIRT2082641	hsa-miR-4709-3p	CLIP-seq
MIRT1280123	hsa-miR-4784	CLIP-seq
MIRT1280126	hsa-miR-518a-5p	CLIP-seq
MIRT1280127	hsa-miR-527	CLIP-seq
MIRT1280128	hsa-miR-561	CLIP-seq
MIRT1280129	hsa-miR-657	CLIP-seq
MIRT1280131	hsa-miR-761	CLIP-seq
MIRT1280093	hsa-miR-1912	CLIP-seq
MIRT2605371	hsa-miR-2054	CLIP-seq
MIRT1280094	hsa-miR-214	CLIP-seq
MIRT1280099	hsa-miR-3117-5p	CLIP-seq
MIRT1280100	hsa-miR-3133	CLIP-seq
MIRT1280101	hsa-miR-3150b-3p	CLIP-seq
MIRT1280102	hsa-miR-3173-3p	CLIP-seq
MIRT1280103	hsa-miR-3185	CLIP-seq
MIRT2605372	hsa-miR-331-3p	CLIP-seq
MIRT1280104	hsa-miR-346	CLIP-seq
MIRT1280105	hsa-miR-3614-5p	CLIP-seq
MIRT2605373	hsa-miR-3616-5p	CLIP-seq
MIRT1280106	hsa-miR-3619-5p	CLIP-seq
MIRT2605374	hsa-miR-3647-5p	CLIP-seq
MIRT2605375	hsa-miR-4293	CLIP-seq
MIRT1280111	hsa-miR-4294	CLIP-seq
MIRT2082637	hsa-miR-4426	CLIP-seq
MIRT1280113	hsa-miR-4496	CLIP-seq
MIRT2605376	hsa-miR-4639-5p	CLIP-seq
MIRT2082639	hsa-miR-4647	CLIP-seq
MIRT2605377	hsa-miR-4659a-3p	CLIP-seq
MIRT2605378	hsa-miR-4659b-3p	CLIP-seq
MIRT2082640	hsa-miR-4662b	CLIP-seq
MIRT2605379	hsa-miR-4670-3p	CLIP-seq
MIRT1280116	hsa-miR-4689	CLIP-seq
MIRT1280118	hsa-miR-4699-5p	CLIP-seq
MIRT2605380	hsa-miR-4766-5p	CLIP-seq
MIRT1280122	hsa-miR-4779	CLIP-seq
MIRT1280123	hsa-miR-4784	CLIP-seq
MIRT2605381	hsa-miR-488	CLIP-seq
MIRT2605382	hsa-miR-511	CLIP-seq
MIRT1280126	hsa-miR-518a-5p	CLIP-seq
MIRT1280127	hsa-miR-527	CLIP-seq
MIRT1280128	hsa-miR-561	CLIP-seq
MIRT2605383	hsa-miR-573	CLIP-seq
MIRT2605384	hsa-miR-606	CLIP-seq
MIRT2605385	hsa-miR-654-3p	CLIP-seq
MIRT1280129	hsa-miR-657	CLIP-seq
MIRT1280130	hsa-miR-668	CLIP-seq
MIRT1280131	hsa-miR-761	CLIP-seq
MIRT2605386	hsa-miR-885-5p	CLIP-seq
MIRT1280093	hsa-miR-1912	CLIP-seq
MIRT2605371	hsa-miR-2054	CLIP-seq
MIRT1280094	hsa-miR-214	CLIP-seq
MIRT1280099	hsa-miR-3117-5p	CLIP-seq
MIRT1280100	hsa-miR-3133	CLIP-seq
MIRT1280101	hsa-miR-3150b-3p	CLIP-seq
MIRT1280102	hsa-miR-3173-3p	CLIP-seq
MIRT1280103	hsa-miR-3185	CLIP-seq
MIRT1280104	hsa-miR-346	CLIP-seq
MIRT1280105	hsa-miR-3614-5p	CLIP-seq
MIRT2605373	hsa-miR-3616-5p	CLIP-seq
MIRT1280106	hsa-miR-3619-5p	CLIP-seq
MIRT2605374	hsa-miR-3647-5p	CLIP-seq
MIRT2605375	hsa-miR-4293	CLIP-seq
MIRT1280111	hsa-miR-4294	CLIP-seq
MIRT2082637	hsa-miR-4426	CLIP-seq
MIRT1280113	hsa-miR-4496	CLIP-seq
MIRT2605376	hsa-miR-4639-5p	CLIP-seq
MIRT2082639	hsa-miR-4647	CLIP-seq
MIRT2605377	hsa-miR-4659a-3p	CLIP-seq
MIRT2605378	hsa-miR-4659b-3p	CLIP-seq
MIRT2082640	hsa-miR-4662b	CLIP-seq
MIRT2605379	hsa-miR-4670-3p	CLIP-seq
MIRT1280116	hsa-miR-4689	CLIP-seq
MIRT1280118	hsa-miR-4699-5p	CLIP-seq
MIRT2605380	hsa-miR-4766-5p	CLIP-seq
MIRT1280122	hsa-miR-4779	CLIP-seq
MIRT1280123	hsa-miR-4784	CLIP-seq
MIRT2605381	hsa-miR-488	CLIP-seq
MIRT2605382	hsa-miR-511	CLIP-seq
MIRT1280126	hsa-miR-518a-5p	CLIP-seq
MIRT1280127	hsa-miR-527	CLIP-seq
MIRT1280128	hsa-miR-561	CLIP-seq
MIRT2605383	hsa-miR-573	CLIP-seq
MIRT2605384	hsa-miR-606	CLIP-seq
MIRT2605385	hsa-miR-654-3p	CLIP-seq
MIRT1280129	hsa-miR-657	CLIP-seq
MIRT1280130	hsa-miR-668	CLIP-seq
MIRT1280131	hsa-miR-761	CLIP-seq
MIRT2605386	hsa-miR-885-5p	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IMP	33384352
GO:0005515	Function	Protein binding	IPI	25416956, 27107012, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	33384352
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006986	Process	Response to unfolded protein	IEA
GO:0016020	Component	Membrane	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IMP	33384352
GO:0034976	Process	Response to endoplasmic reticulum stress	IMP	33384352
GO:0036499	Process	PERK-mediated unfolded protein response	IMP	33384352
GO:0043065	Process	Positive regulation of apoptotic process	IMP	33384352
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	33384352
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IMP	33384352
GO:0140467	Process	Integrated stress response signaling	IMP	33384352

MIM	HGNC	e!Ensembl
617387	24713	ENSG00000198218

Q2TAL8

Protein name

Transcriptional regulator QRICH1 (Glutamine-rich protein 1)

Protein function

Transcriptional regulator that acts as a mediator of the integrated stress response (ISR) through transcriptional control of protein homeostasis under conditions of ER stress (PubMed:33384352). Controls the outcome of the unfolded protein respon

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12012	DUF3504	599 → 759	Domain of unknown function (DUF3504)	Family

Sequence

MNNSLENTISFEEYIRVKARSVPQHRMKEFLDSLASKGPEALQEFQQTATTTMVYQQGGN
CIYTDSTEVAGSLLELACPVTTSVQPQTQQEQQIQVQQPQQVQVQVQVQQSPQQVSAQLS
PQLTVHQPTEQPIQVQVQIQGQAPQSAAPSIQTPSLQSPSPSQLQAAQIQVQHVQAAQQI
QAAEIPEEHIPHQQIQAQLVAGQSLAGGQQIQIQTVGALSPPPSQQGSPREGERRVGTAS
VLQPVKKRKVDMPITVSYAISGQPVATVLAIPQGQQQSYVSLRPDLLTVDSAHLYSATGT
ITSPTGETWTIPVYSAQPRGDPQQQSITHIAIPQEAYNAVHVSGSPTALAAVKLEDDKEK
MVGTTSVVKNSHEEVVQTLANSLFPAQFMNGNIHIPVAVQAVAGTYQNTAQTVHIWDPQQ
QPQQQTPQEQTPPPQQQQQQLQVTCSAQTVQVAEVEPQSQPQPSPELLLPNSLKPEEGLE
VWKNWAQTKNAELEKDAQNRLAPIGRRQLLRFQEDLISSAVAELNYGLCLMTREARNGEG
EPYDPDVLYYIFLCIQKYLFENGRVDDIFSDLYYVRFTEWLHEVLKDVQPRVTPLGYVLP
SHVTEEMLWECKQLGAHSPSTLLTTLMFFNTKYFLLKTVDQHMKLAFSKVLRQTKKNPSN
PKDKSTSIRYLKALGIHQTGQKVTDDMYAEQTENPENPLRCPIKLYDFYLFKCPQSVKGR
NDTFYLTPEPVVAPNSPIWYSVQPISREQMGQMLTRILVIREIQEAIAVANASTMH

Sequence length

776

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Likely pathogenic; Pathogenic	rs2106905056, rs1236702036, rs2093408575	RCV001526610 RCV001194662 RCV001194624	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mild intellectual disability	Pathogenic	rs2093252843	RCV001195178	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ververi-Brady syndrome	Likely pathogenic; Pathogenic	rs2106983539, rs2106905056, rs1376687924, rs2106863220, rs763953500, rs2106983258, rs2106906600, rs2106905658, rs2106905360, rs2106904870, rs2106904799, rs2106903855, rs2106903534, rs2106903309, rs746059690 View all (28 more)	RCV001391660 RCV001799766 RCV001548773 RCV001554342 RCV001800216 View all (39 more)	★★★★★ ★★★★★ 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.
Autism spectrum disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
QRICH1-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ververi-Brady syndrome 1	Conflicting classifications of pathogenicity	ClinVar GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (32)

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	34859529	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	34859529	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34895237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	37211757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cyclic neutropenia	Cyclic neutropenia	Pubtator	20679962	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34859529, 37331002	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	37331002	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28692176, 30281152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	34859529, 37211757, 37331002	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	37331002	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	25529582		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	34859529	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Learning Disabilities	Learning disorders	Pubtator	37211757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	37211757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17510977		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	37486637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
QRICH1-related intellectual disability-chondrodysplasia syndrome	Intellectual Disability-Chondrodysplasia Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	34859529	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	34859529	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
VERVERI-BRADY SYNDROME	Ververi-Brady syndrome	GENOMICS_ENGLAND_DG	25529582		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
VERVERI-BRADY SYNDROME	Ververi-Brady syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

QRICH1 (glutamine rich 1)