Gene: NFIB ENSG00000147862

Description

nuclear factor I/B [Source:HGNC Symbol;Acc:7785]

Gene Synonyms

CTF, HMGIC/NFIB, NF-I/B, NF1-B, NFI-B, NFI-RED, NFIB2, NFIB3

Location

Chromosome 9: 14,081,842-14,398,982 reverse strand.

GRCh37:CM000671.1

About this gene

This gene has 11 transcripts (splice variants), 3 paralogues and is associated with 56 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000380953.1	NFIB-005	2381	494aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS55291	O00712	NM_001190737.1	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000380959.3	NFIB-001	8198	420aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS6474	O00712 Q5VW28 Q5VW31	NM_005596.3	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000380934.4	NFIB-201	8159	446aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS55292	Q5VW31	NM_001190738.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000397581.2	NFIB-003	3318	570aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5VW26	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000397579.2	NFIB-002	3129	487aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5VW27	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000397575.3	NFIB-004	2869	561aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V1P1 Q5VW30	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000543693.1	NFIB-202	1855	309aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS65007	G3V1P1	NM_001282787.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000380921.3	NFIB-006	1274	200aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5W0Y9	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000380924.1	NFIB-008	840	168aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5VW31	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000493697.1	NFIB-007	591	166aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		U3KPY9	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000606230.1	NFIB-009	557	59aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		U3KQE8	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,

Structural variants

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Structural variants

Name	Chr:bp	Genomic size (bp)	Class	Source Study	Study description
nsv6634409	9:1-40036525	4003652540,036,525	CNV	dbVar:nstd102	NCBI database of human genomic structural variation: Structural Variants with clinical assertions, submitted to ClinVar by external labs.
nsv482233	9:1-141213431	141213431141,213,431	CNV	DGVa:nstd40	Database of Genomic Variants Archive: Sharp 2006 "Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome." PMID:16906162
nsv1019268	9:10001-39059958	3904995839,049,958	CNV	DGVa:nstd100	Database of Genomic Variants Archive: Coe 2014 "Refining analyses of copy number variation identifies specific genes associated with developmental delay." PMID:25217958
nsv539814	9:10001-39059958	3904995839,049,958	CNV	DGVa:nstd54	Database of Genomic Variants Archive: Cooper 2011 "A copy number variation morbidity map of developmental delay." PMID:21841781
nsv3891842	9:10590-141107672	141097083141,097,083	CNV	dbVar:nstd102	NCBI database of human genomic structural variation: Structural Variants with clinical assertions, submitted to ClinVar by external labs.
nsv3905118	9:10590-141114095	141103506141,103,506	CNV	dbVar:nstd102	NCBI database of human genomic structural variation: Structural Variants with clinical assertions, submitted to ClinVar by external labs.
nsv3890420	9:10590-141122247	141111658141,111,658	CNV	dbVar:nstd102	NCBI database of human genomic structural variation: Structural Variants with clinical assertions, submitted to ClinVar by external labs.
nsv2771438	9:12934-19777918	1976498519,764,985	CNV	DGVa:nstd37	Database of Genomic Variants Archive: International Standards for Cytogenetic Array Consortium
nsv3919798	9:12934-19777918	1976498519,764,985	CNV	dbVar:nstd102	NCBI database of human genomic structural variation: Structural Variants with clinical assertions, submitted to ClinVar by external labs.
nsv2771726	9:12934-65482544	6546961165,469,611	CNV	DGVa:nstd37	Database of Genomic Variants Archive: International Standards for Cytogenetic Array Consortium
nsv3921759	9:12934-65482544	6546961165,469,611	CNV	dbVar:nstd102	NCBI database of human genomic structural variation: Structural Variants with clinical assertions, submitted to ClinVar by external labs.
nsv2774488	9:12934-141153431	141140498141,140,498	CNV	DGVa:nstd37	Database of Genomic Variants Archive: International Standards for Cytogenetic Array Consortium
nsv3912247	9:12934-141153431	141140498141,140,498	CNV	dbVar:nstd102	NCBI database of human genomic structural variation: Structural Variants with clinical assertions, submitted to ClinVar by external labs.
nsv948870	9:13091-17948949	1793585917,935,859	CNV	DGVa:nstd85	Database of Genomic Variants Archive: Vulto 2013 "The study consists of a cohort of 5,531 consecutive patients with intellectual disability who were screened for CNVs using the Affymetrix 250K NspI single-nucleotide polymorphism (SNP) array platform, between 2006 and 2011."
nsv948970	9:13091-67603122	6759003267,590,032	CNV	DGVa:nstd85	Database of Genomic Variants Archive: Vulto 2013 "The study consists of a cohort of 5,531 consecutive patients with intellectual disability who were screened for CNVs using the Affymetrix 250K NspI single-nucleotide polymorphism (SNP) array platform, between 2006 and 2011."
nsv2769134	9:13997-70919878	7090588270,905,882	CNV	DGVa:nstd37	Database of Genomic Variants Archive: International Standards for Cytogenetic Array Consortium
nsv3907430	9:13997-70919878	7090588270,905,882	CNV	dbVar:nstd102	NCBI database of human genomic structural variation: Structural Variants with clinical assertions, submitted to ClinVar by external labs.
nsv498523	9:13997-71015981	7100198571,001,985	CNV	DGVa:nstd37	Database of Genomic Variants Archive: International Standards for Cytogenetic Array Consortium
nsv3915734	9:13997-71015981	7100198571,001,985	CNV	dbVar:nstd102	NCBI database of human genomic structural variation: Structural Variants with clinical assertions, submitted to ClinVar by external labs.
nsv2771898	9:32396-39140211	3910781639,107,816	CNV	DGVa:nstd37	Database of Genomic Variants Archive: International Standards for Cytogenetic Array Consortium
nsv3897423	9:32396-39140211	3910781639,107,816	CNV	dbVar:nstd102	NCBI database of human genomic structural variation: Structural Variants with clinical assertions, submitted to ClinVar by external labs.
nsv429708	9:40910-38771831	0-	CNV	DGVa:nstd11	Database of Genomic Variants Archive: Walter 2009 "Acquired copy number alterations in adult acute myeloid leukemia genomes." PMID:19651600
nsv949161	9:40910-67603122	6756221367,562,213	CNV	DGVa:nstd85	Database of Genomic Variants Archive: Vulto 2013 "The study consists of a cohort of 5,531 consecutive patients with intellectual disability who were screened for CNVs using the Affymetrix 250K NspI single-nucleotide polymorphism (SNP) array platform, between 2006 and 2011."
nsv429575	9:40910-141091394	0-	CNV	DGVa:nstd11	Database of Genomic Variants Archive: Walter 2009 "Acquired copy number alterations in adult acute myeloid leukemia genomes." PMID:19651600
nsv918031	9:46586-40095483	4004889840,048,898	CNV	DGVa:nstd75	Database of Genomic Variants Archive: International Standards for Cytogenomic Arrays Consortium (prenatal dataset) PMID:21844811 PMID:20466091

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Copy number variant probes

Name	Chr:bp	Genomic size (bp)	Class	Source Study	Study description
CN_1308401	9:14087784-14087808	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308402	9:14088682-14088706	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308403	9:14092175-14092199	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308404	9:14092471-14092495	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308406	9:14093834-14093858	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308407	9:14094926-14094950	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_384163	9:14098766-14098790	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308408	9:14100304-14100328	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308411	9:14102600-14102624	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308412	9:14103230-14103254	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308413	9:14105801-14105825	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308414	9:14111160-14111184	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_384165	9:14111861-14111885	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308415	9:14114980-14115004	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308416	9:14115571-14115595	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308417	9:14123617-14123641	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308418	9:14127247-14127271	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308419	9:14129298-14129322	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308420	9:14134378-14134402	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308421	9:14137445-14137469	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308422	9:14138091-14138115	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308423	9:14141109-14141133	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308424	9:14141476-14141500	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308425	9:14146294-14146318	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0
CN_1308426	9:14148659-14148683	0-	CNV_PROBE	Affy GenomeWideSNP_6 CNV	Copy Number Variation (CNV) probes from the Affymetrix Genome-Wide Human SNP Array 6.0

Showing 1 to 25 of 122 entries

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Gene: NFIB ENSG00000147862

Structural variants

Structural variants

Copy number variant probes