Gene

Gene:

CABYR (official gene symbol)

Other symbol:

CABYR

CT family:

CT88

CT identifier:

CT88

Aliases from NCBI:

CBP86 , FSP-2 , MGC9117

RefSeq

Nucleotide : NM_153770.1 | NM_138644.1 | NM_153768.1 | NM_012189.2 | NM_138643.1 | NM_153769.1

Gene Identification

CABYR was identified by proteomic and molecular methods (Naaby-Hansen et al., 2002 PMID: 11820818, Luo et al., 2007 PMID: 17317841).

Gene structure and chromosomal localization

There are five CABYR exons spanning 18.5 kb of genomic DNA. There are six human CABYR mRNAs, CABYR I–VI, including 5 splice variants involving two coding regions, coding region A (CR-A), and coding region B (CR-B) (Naaby-Hansen et al., 2002 PMID: 11820818). The six transcript variants encode five protein isoforms: CABYR-a, CABYR-b, CABYR-c, CABYR-d, and CABYR-e (two of the transcript variants encode the same isoform, CABYR-c).

Chromosome band: 18q11.2

See this gene in the UCSC Genome Browser :

See this gene in the NCBI Map Viewer Genome Browser :

Exon-intron structure and splicing variants

Splicing variants documented by RefSeqs:

SNPs

Show

ACCESSION	ALLELES	HET	SE_HET	FXN_CLASS	RESIDUE	AA_POSITION	VALIDATED
rs176090	A/C	0	0	coding-synonymous	L	17	YES
rs176090	A/C	0	0	reference	L	17	YES
rs1049682	C/T	0	0	reference	K	447	YES
rs1049682	C/T	0	0	missense	R	447	YES
rs1049682	C/T	0	0	reference	K	429	YES
rs1049682	C/T	0	0	missense	R	429	YES
rs1049683	A/C	0.216607	0.24776	missense	A	471	YES
rs1049683	A/C	0.216607	0.24776	reference	S	471	YES
rs1049683	A/C	0.216607	0.24776	missense	A	489	YES
rs1049683	A/C	0.216607	0.24776	reference	S	489	YES
rs1049683	A/C	0.216607	0.24776	reference	A	471	YES
rs1049683	A/C	0.216607	0.24776	missense	S	471	YES
rs1049683	A/C	0.216607	0.24776	reference	A	489	YES
rs1049683	A/C	0.216607	0.24776	missense	S	489	YES
rs1049684	A/G	0.496247	0.0431584	coding-synonymous	P	178	YES
rs1049684	A/G	0.496247	0.0431584	reference	P	178	YES
rs1049684	A/G	0.496247	0.0431584	coding-synonymous	P	276	YES
rs1049684	A/G	0.496247	0.0431584	reference	P	276	YES
rs7504775	A/G	0	0	coding-synonymous	Q	267	YES
rs7504775	A/G	0	0	reference	Q	267	YES
rs7504775	A/G	0	0	coding-synonymous	Q	169	YES
rs7504775	A/G	0	0	reference	Q	169	YES
rs11552048	A/C	0	0	missense	K	34	YES
rs11552048	A/C	0	0	reference	Q	34	YES
rs11552049	A/C	0	0	missense	Q	162	YES
rs11552049	A/C	0	0	reference	P	162	YES
rs11552049	A/C	0	0	missense	Q	64	YES
rs11552049	A/C	0	0	reference	P	64	YES
rs11552049	A/C	0	0	missense	Q	144	YES
rs11552049	A/C	0	0	reference	P	144	YES
rs35118855	A/G	0.00799987	0.062737	reference	I	167	YES
rs35118855	A/G	0.00799987	0.062737	missense	V	167	YES
rs35118855	A/G	0.00799987	0.062737	reference	I	185	YES
rs35118855	A/G	0.00799987	0.062737	missense	V	185	YES
rs35239445	A/G	0.0253123	0.109615	missense	I	290	NO
rs35239445	A/G	0.0253123	0.109615	reference	V	290	NO
rs35239445	A/G	0.0253123	0.109615	missense	I	272	NO
rs35239445	A/G	0.0253123	0.109615	reference	V	272	NO
rs35554127	C/T	0.0395096	0.134884	reference	R	340	YES
rs35554127	C/T	0.0395096	0.134884	nonsense	*	340	YES
rs35554127	C/T	0.0395096	0.134884	reference	R	322	YES
rs35554127	C/T	0.0395096	0.134884	nonsense	*	322	YES

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