BICRA (BRD4 interacting chromatin remodeling complex associated protein)

Gene

• Entrez ID: 29998
• Gene name: BRD4 interacting chromatin remodeling complex associated protein
• Gene symbol: BICRA
• Synonyms (NCBI Gene): CSS12, GLTSCR1, SMARCK1
• Chromosome: 19
• Chromosome location: 19q13.33

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT567456	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT082594	hsa-miR-3923	PAR-CLIP	20371350
MIRT082589	hsa-miR-200a-5p	PAR-CLIP	20371350
MIRT082588	hsa-miR-200b-5p	PAR-CLIP	20371350
MIRT082590	hsa-miR-600	PAR-CLIP	20371350
MIRT567455	hsa-miR-6818-3p	PAR-CLIP	20371350
MIRT487312	hsa-miR-3202	PAR-CLIP	23592263
MIRT487311	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT487310	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT487309	hsa-miR-92b-5p	PAR-CLIP	23592263
MIRT487308	hsa-miR-4271	PAR-CLIP	23592263
MIRT487306	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT487307	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT487305	hsa-miR-3191-3p	PAR-CLIP	23592263

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	NAS	29374058
GO:0005515	Function	Protein binding	IPI	17474147, 21555454, 29374058, 35044719
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	21555454
GO:0006338	Process	Chromatin remodeling	NAS	29374058
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	29374058
GO:0008284	Process	Positive regulation of cell population proliferation	NAS	29374058
GO:0016514	Component	SWI/SNF complex	IBA
GO:0016514	Component	SWI/SNF complex	IDA	29374058
GO:0016514	Component	SWI/SNF complex	IEA
GO:0045596	Process	Negative regulation of cell differentiation	NAS	30510198
GO:0045893	Process	Positive regulation of DNA-templated transcription	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	21555454
GO:0140288	Component	GBAF complex	NAS	29374058
GO:0140537	Function	Transcription regulator activator activity	IMP	21555454
GO:1902459	Process	Positive regulation of stem cell population maintenance	NAS	30510198

Other IDs

• MIM: 605690
• HGNC: 4332
• e!Ensembl: ENSG00000063169

Protein

• UniProt ID: Q9NZM4
• Protein name: BRD4-interacting chromatin-remodeling complex-associated protein (Glioma tumor suppressor candidate region gene 1 protein)
• Protein function: Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:29374058). May play a role
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15249	GLTSCR1	1091 → 1192	Conserved region of unknown function on GLTSCR protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed at moderate levels in heart, brain, placenta, skeletal muscle, and pancreas, and at lower levels in lung, liver and kidney. {ECO:0000269|PubMed:10708517}.
• Sequence:

  MDDEDGRCLLDVICDPQALNDFLHGSEKLDSDDLLDNPGEAQSAFYEGPGLHVQEASGNH
  LNPEPNQPAPSVDLDFLEDDILGSPATGGGGGGSGGADQPCDILQQSLQEANITEQTLEA
  EAELDLGPFQLPTLQPADGGAGPTGAGGAAAVAAGPQALFPGSTDLLGLQGPPTVLTHQA
  LVPPQDVVNKALSVQPFLQPVGLGNVTLQPIPGLQGLPNGSPGGATAATLGLAPIQVVGQ
  PVMALNTPTSQLLAKQVPVSGYLASAAGPSEPVTLASAGVSPQGAGLVIQKNLSAAVATT
  LNGNSVFGGAGAASAPTGTPSGQPLAVAPGLGSSPLVPAPNVILHRTPTPIQPKPAGVLP
  PKLYQLTPKPFAPAGATLTIQGEPGALPQQPKAPQNLTFMAAGKAGQNVVLSGFPAPALQ
  ANVFKQPPATTTGAAPPQPPGALSKPMSVHLLNQGSSIVIPAQHMLPGQNQFLLPGAPAV
  QLPQQLSALPANVGGQILAAAAPHTGGQLIANPILTNQNLAGPLSLGPVLAPHSGAHSAH
  ILSAAPIQVGQPALFQMPVSLAAGSLPTQSQPAPAGPAATTVLQGVTLPPSAVAMLNTPD
  GLVQPATPAAATGEAAPVLTVQPAPQAPPAVSTPLPLGLQQPQAQQPPQAPTPQAAAPPQ
  ATTPQPSPGLASSPEKIVLGQPPSATPTAILTQDSLQMFLPQERSQQPLSAEGPHLSVPA
  SVIVSAPPPAQDPAPATPVAKGAGLGPQAPDSQASPAPAPQIPAAAPLKGPGPSSSPSLP
  HQAPLGDSPHLPSPHPTRPPSRPPSRPQSVSRPPSEPPLHPCPPPQAPPTLPGIFVIQNQ
  LGVPPPASNPAPTAPGPPQPPLRPQSQPPEGPLPPAPHLPPSSTSSAVASSSETSSRLPA
  PTPSDFQLQFPPSQGPHKSPTPPPTLHLVPEPAAPPPPPPRTFQMVTTPFPALPQPKALL
  ERFHQVPSGIILQNKAGGAPAAPQTSTSLGPLTSPAASVLVSGQAPSGTPTAPSHAPAPA
  PMAATGLPPLLPAENKAFASNLPTLNVAKAASSGPGKPSGLQYESKLSGLKKPPTLQPSK
  EACFLEHLHKHQGSVLHPDYKTAFPSFEDALHRLLPYHVYQGALPSPSDYHKVDEEFETV
  STQLLKRTQAMLNKYRLLLLEESRRVSPSAEMVMIDRMFIQEEKTTLALDKQLAKEKPDE
  YVSSSRSLGLPIAASSEGHRLPGHGPLSSSAPGASTQPPPHLPTKLVIRHGGAGGSPSVT
  WARASSSLSSSSSSSSAASSLDADEDGPMPSRNRPPIKTYEARSRIGLKLKIKQEAGLSK
  VVHNTALDPVHQPPPPPATLKVAEPPPRPPPPPPPTGQMNGTVDHPPPAAPERKPLGTAP
  HCPRLPLRKTYRENVGGPGAPEGTPAGRARGGSPAPLPAKVDEATSGLIRELAAVEDELY
  QRMLKGPPPEPAASAAQGTGDPDWEAPGLPPAKRRKSESPDVDQASFSSDSPQDDTLTEH
  LQSAIDSILNLQQAPGRTPAPSYPHAASAGTPASPPPLHRPEAYPPSSHNGGLGARTLTR
  

• Sequence length: 1560

Pathways

KEGG:

ATP-dependent chromatin remodeling

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
BICRA-related disorder	Likely pathogenic	rs2514138366	RCV003397708	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coffin-Siris syndrome 12	Pathogenic; Likely pathogenic	rs1229548274, rs2123606076, rs2123584339, rs2123584685, rs1490477251, rs1375723922, rs1424525709, rs2514109185, rs2514111647, rs2514110530, rs2514111692, rs2514108449, rs2514126893, rs1973387849, rs2514109782, rs2514130905, rs1973345860	RCV001431523 RCV001431525 RCV001431529 RCV001754554 RCV002249297 RCV002274300 RCV002274301 RCV002287201 RCV002463409 RCV002463467 RCV003147923 RCV003232040 RCV003232041 RCV003493344 RCV003596253 RCV004566518 RCV001431527	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic	rs1973345860	RCV001290424	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COFFIN-SIRIS SYNDROME	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COFFIN-SIRIS SYNDROME 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	15834925, 30405818		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	27613841	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	30128886		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30128886		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	15834925, 30405818		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31832310		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35218185	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19318434	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19318434	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	15834925, 16212814, 20150366	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16212814		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	37485815	Associate	★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 31B	Immunodeficiency	GWASCAT_DG	22174851		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	27622933		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30128886		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30405818		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30405818		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	20150366		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	20150366	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	29374058		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	27622933		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30405818		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	15834925, 30405818		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	LHGDN	15834925		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	15834925	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37579195	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Hip	Osteoarthritis	Pubtator	37579195	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30405818		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29374058	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	15834925, 30405818		★☆☆☆☆ Found in Text Mining only