Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	100505385
Gene name	IQCJ-SCHIP1 readthrough
Gene symbol	IQCJ-SCHIP1
Synonyms (NCBI Gene)	-
Chromosome	3
Chromosome location	3q25.32-q25.33
Summary	This locus represents naturally occurring read-through transcription from the neighboring IQ motif containing J (IQCJ) and schwannomin interacting protein 1 (SCHIP1) genes. Alternative splicing results in multiple transcript variants that are composed of

63 Show/Hide all (63)

miRTarBase ID	miRNA	Experiments
MIRT1069698	hsa-miR-181a	CLIP-seq
MIRT1069699	hsa-miR-181b	CLIP-seq
MIRT1069700	hsa-miR-181c	CLIP-seq
MIRT1069701	hsa-miR-181d	CLIP-seq
MIRT1069702	hsa-miR-196a	CLIP-seq
MIRT1069703	hsa-miR-196b	CLIP-seq
MIRT1069704	hsa-miR-4262	CLIP-seq
MIRT1069705	hsa-miR-4698	CLIP-seq
MIRT1069706	hsa-miR-4719	CLIP-seq
MIRT1069707	hsa-miR-505	CLIP-seq
MIRT1069708	hsa-miR-513b	CLIP-seq
MIRT1069709	hsa-miR-543	CLIP-seq
MIRT1069710	hsa-miR-129-5p	CLIP-seq
MIRT1069711	hsa-miR-1827	CLIP-seq
MIRT1069712	hsa-miR-940	CLIP-seq
MIRT1550179	hsa-miR-139-5p	CLIP-seq
MIRT1069711	hsa-miR-1827	CLIP-seq
MIRT1550180	hsa-miR-4277	CLIP-seq
MIRT1550181	hsa-miR-4659a-3p	CLIP-seq
MIRT1550182	hsa-miR-4659b-3p	CLIP-seq
MIRT1550183	hsa-miR-4778-3p	CLIP-seq
MIRT1550184	hsa-miR-548a-3p	CLIP-seq
MIRT1550185	hsa-miR-548e	CLIP-seq
MIRT1550186	hsa-miR-548f	CLIP-seq
MIRT1550187	hsa-miR-582-5p	CLIP-seq
MIRT1069712	hsa-miR-940	CLIP-seq
MIRT2017159	hsa-miR-200b	CLIP-seq
MIRT2017160	hsa-miR-200c	CLIP-seq
MIRT2017161	hsa-miR-3153	CLIP-seq
MIRT2017162	hsa-miR-429	CLIP-seq
MIRT2017163	hsa-miR-452	CLIP-seq
MIRT2017164	hsa-miR-4668-5p	CLIP-seq
MIRT2017165	hsa-miR-4676-3p	CLIP-seq
MIRT2249125	hsa-miR-4729	CLIP-seq
MIRT1069710	hsa-miR-129-5p	CLIP-seq
MIRT1069711	hsa-miR-1827	CLIP-seq
MIRT1069712	hsa-miR-940	CLIP-seq
MIRT1550184	hsa-miR-548a-3p	CLIP-seq
MIRT1550185	hsa-miR-548e	CLIP-seq
MIRT1550186	hsa-miR-548f	CLIP-seq
MIRT2552706	hsa-miR-140-3p	CLIP-seq
MIRT2552707	hsa-miR-141	CLIP-seq
MIRT2552708	hsa-miR-200a	CLIP-seq
MIRT2552709	hsa-miR-2117	CLIP-seq
MIRT2552710	hsa-miR-3145-3p	CLIP-seq
MIRT2552711	hsa-miR-326	CLIP-seq
MIRT2552712	hsa-miR-330-5p	CLIP-seq
MIRT2552713	hsa-miR-4273	CLIP-seq
MIRT2552714	hsa-miR-4310	CLIP-seq
MIRT2552715	hsa-miR-4453	CLIP-seq
MIRT2552716	hsa-miR-4538	CLIP-seq
MIRT2552717	hsa-miR-4677-5p	CLIP-seq
MIRT2552718	hsa-miR-4766-3p	CLIP-seq
MIRT2552719	hsa-miR-544	CLIP-seq
MIRT2552720	hsa-miR-548p	CLIP-seq
MIRT2552706	hsa-miR-140-3p	CLIP-seq
MIRT2552707	hsa-miR-141	CLIP-seq
MIRT2552708	hsa-miR-200a	CLIP-seq
MIRT2552710	hsa-miR-3145-3p	CLIP-seq
MIRT2552714	hsa-miR-4310	CLIP-seq
MIRT2552718	hsa-miR-4766-3p	CLIP-seq
MIRT2552719	hsa-miR-544	CLIP-seq
MIRT2552720	hsa-miR-548p	CLIP-seq

9 Show/Hide all (9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25950943
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0030054	Component	Cell junction	IBA
GO:0030424	Component	Axon	IEA
GO:0035332	Process	Positive regulation of hippo signaling	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043194	Component	Axon initial segment	ISS
GO:0051494	Process	Negative regulation of cytoskeleton organization	IMP	25950943

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

B3KU38

Protein name

IQCJ-SCHIP1 readthrough transcript protein

Protein function

May play a role in action potential conduction in myelinated cells through the organization of molecular complexes at nodes of Ranvier and axon initial segments (PubMed:25950943). May also play a role in axon outgrowth and guidance (By similarit

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10148	SCHIP-1	331 → 560	Schwannomin-interacting protein 1	Family
PF15157	IQCJ-SCHIP1	4 → 146	Fusion protein IQCJ-SCHIP1 with IQ-like motif	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain and to a lower extent in heart and kidney. {ECO:0000269|PubMed:17045569}.

Sequence

MRLEELKRLQNPLEQVNDGKYSFENHQLAMDAENNIEKYPLNLQPLESKVKIIQRAWREY
LQRQEPLGKRSPSPPSVSSEKLSSSVSMNTFSDSSTPDYREDGMDLGSDAGSSSSSSRAS
SQSNSTKVTPCSECKSSSSPGGSLDLVSALEDYEEPFPVYQKKVIDEWAPEEDGEEEEEE
DERDQRGYRDDRSPAREPGDVSARTRSGGGGGRSATTAMPPPVPNGNLHQHDPQDLRHNG
NVVVAGRPSCSRGPRRAIQKPQPAGGRRSGRGPAAGGLCLQPPDGGTCVPEEPPVPPMDW
EALEKHLAGLQFREQEVRNQGQARTNSTSAQKNERESIRQKLALGSFFDDGPGIYTSCSK
SGKPSLSSRLQSGMNLQICFVNDSGSDKDSDADDSKTETSLDTPLSPMSKQSSSYSDRDT
TEEESESLDDMDFLTRQKKLQAEAKMALAMAKPMAKMQVEVEKQNRKKSPVADLLPHMPH
ISECLMKRSLKPTDLRDMTIGQLQVIVNDLHSQIESLNEELVQLLLIRDELHTEQDAMLV
DIEDLTRHAESQQKHMAEKMPAK

Sequence length

563

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)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (16)
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	34446935	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	38616254	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM OF ADRENAL GLAND	—	GWAS catalog	40465716	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	30373671	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	GWAS catalog	28468790	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS	—	GWAS catalog	28468790	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	30177863	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	37094658	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	33958783	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	26545240	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	38616254	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	34446935	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	36750564	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	35893037	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Childhood asthma	Asthma	GWASCAT_DG	30373671	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31205916	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	28787085	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
IQCJ	5	["Adrenal gland neoplasms","Congenital heart disease","Conotruncal cardiac defect","Obsessive-compulsive disorder","Pelvic organ prolapse"]	[]	5	["GWAS catalog (Adrenal gland neoplasms)","GWAS catalog (Congenital heart disease)","GWAS catalog (Conotruncal cardiac defect)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Pelvic organ prolapse)"]
SCHIP1	4	["B-cell acute lymphoblastic leukemia","Congenital heart disease","Conotruncal cardiac defect","Biliary cholangitis"]	[]	4	["GWAS catalog (B-cell acute lymphoblastic leukemia)","GWAS catalog (Congenital heart disease)","GWAS catalog (Conotruncal cardiac defect)","GWAS catalog (Biliary cholangitis)"]
EBLN1	2	["B-cell acute lymphoblastic leukemia","Biliary cholangitis"]	[]	2	["GWAS catalog (B-cell acute lymphoblastic leukemia)","GWAS catalog (Biliary cholangitis)"]
CTSG	2	["Congenital heart disease","Conotruncal cardiac defect"]	[]	2	["GWAS catalog (Congenital heart disease)","GWAS catalog (Conotruncal cardiac defect)"]
ADAM29	2	["Congenital heart disease","Conotruncal cardiac defect"]	[]	2	["GWAS catalog (Congenital heart disease)","GWAS catalog (Conotruncal cardiac defect)"]

IQCJ-SCHIP1 (IQCJ-SCHIP1 readthrough)

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