Hs04457878_cn

• Gene Symbol: RBFOX1
• Assay Reference Genome Location: Chr.16:5245157 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 54715
• Gene Name: RNA binding protein, fox-1 homolog 1
• Gene Aliases: 2BP1, A2BP1, FOX-1, FOX1, HRNBP1
• Location: Chr.16:5239749-7713343 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RBFOX1	XM_017023319.1			XP_016878808.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1035156	Chr.16:5091032 - 5996934 on Build GRCh38	Gain	EEF2KMT MIR8065 RBFOX1 LINC01570
nsv974753	Chr.16:5236416 - 5296073 on Build GRCh38	Duplication	RBFOX1
nsv428318	Chr.16:5011594 - 5374828 on Build GRCh38	Gain	NAGPA-AS1 C16orf89 NAGPA SEC14L5 EEF2KMT RBFOX1 ALG1
nsv516117	Chr.16:5235393 - 5301110 on Build GRCh38	Loss	RBFOX1
dgv2696n100	Chr.16:5114681 - 5298137 on Build GRCh38	Loss	RBFOX1
esv3637713	Chr.16:4957958 - 5307305 on Build GRCh38	Gain	NAGPA-AS1 C16orf89 NAGPA SEC14L5 EEF2KMT RBFOX1 ALG1
nsv1046986	Chr.16:4049000 - 5555721 on Build GRCh38	Gain	HMOX2 EEF2KMT ALG1 ROGDI SRL NMRAL1 GLYR1 NAGPA LOC105371063 ZNF500 PPL LINC01569 DNAJA3 TFAP4 ADCY9 GLIS2 SEPT12 MGRN1 NUDT16L1 SEC14L5 PAM16 SMIM22 C16orf71 CORO7-PAM16 RBFOX1 VASN MIR6769A UBN1 ANKS3 UBALD1 NAGPA-AS1 C16orf89 CDIP1 CORO7 GLIS2-AS1 C16orf96
nsv1045304	Chr.16:5205761 - 5326875 on Build GRCh38	Loss	RBFOX1
esv34300	Chr.16:5005938 - 5322534 on Build GRCh38	Gain	NAGPA-AS1 C16orf89 NAGPA SEC14L5 EEF2KMT RBFOX1 ALG1
nsv1038475	Chr.16:5004985 - 5310633 on Build GRCh38	Gain	NAGPA-AS1 C16orf89 NAGPA SEC14L5 EEF2KMT RBFOX1 ALG1
nsv457360	Chr.16:4960912 - 5284683 on Build GRCh38	Loss	NAGPA-AS1 C16orf89 NAGPA SEC14L5 EEF2KMT RBFOX1 ALG1
esv2760069	Chr.16:4922849 - 5374828 on Build GRCh38	Gain+Loss	NAGPA-AS1 C16orf89 NAGPA SEC14L5 PPL EEF2KMT RBFOX1 ALG1
nsv817715	Chr.16:5006294 - 5309352 on Build GRCh38	Gain	NAGPA-AS1 C16orf89 NAGPA SEC14L5 EEF2KMT RBFOX1 ALG1

More Information

Additional Information:

For this assay, SNP(s) [rs112800026] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA metabolism protein, RNA processing factor, RNA splicing factor, nucleic acid metabolism protein

Gene Ontology Categories:

Process(es)

regulation of alternative mRNA splicing, via spliceosome
mRNA processing
nervous system development
RNA splicing
RNA transport

Function(s)

nucleotide binding
RNA binding
mRNA binding
protein binding
protein C-terminus binding