Hs04208181_cn

• Gene Symbol: CFHR4
• Assay Reference Genome Location: Chr.1:196893419 on build GRCh38
• Cytoband: 1q31.3

Target Gene Details

• Entrez Gene ID: 10877
• Gene Name: complement factor H related 4
• Gene Aliases: CFHL4, FHR-4, FHR4
• Location: Chr.1:196888014-196918911 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CFHR4	NM_001201550.2			NP_001188479.1
	NM_001201551.1			NP_001188480.1
	NM_006684.4			NP_006675.2
	XM_006711129.3			XP_006711192.1
	XM_017000110.1			XP_016855599.1
	XM_017000111.1			XP_016855600.1
	XM_017000112.1			XP_016855601.1
	XM_017000113.1			XP_016855602.1
	AJ640130.2			CAG26679.2
	AK292752.1
	BC074957.2			AAH74957.1
	X98337.1			CAA66980.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2421550	Chr.1:196851447 - 196932623 on Build GRCh38	Deletion	CFHR4
nsv471614	Chr.1:196700381 - 196986100 on Build GRCh38	Gain+Loss	CFHR1 CFHR2 CFHR4 CFHR5 CFH CFHR3
dgv6e203	Chr.1:196758720 - 196970589 on Build GRCh38	Gain+Loss	CFHR1 CFHR2 CFHR4 CFHR3
dgv551n100	Chr.1:196832195 - 196940503 on Build GRCh38	Gain+Loss	CFHR4
nsv1009809	Chr.1:196884377 - 196932623 on Build GRCh38	Loss	CFHR4
esv3890993	Chr.1:196830507 - 196932623 on Build GRCh38	Gain+Loss	CFHR1 CFHR4
esv3588479	Chr.1:196850486 - 196901215 on Build GRCh38	Loss	CFHR4
nsv469599	Chr.1:196827346 - 196986100 on Build GRCh38	Loss	CFHR1 CFHR2 CFHR4 CFHR5
nsv1159842	Chr.1:196780731 - 196940515 on Build GRCh38	Duplication	CFHR1 CFHR4 CFHR3
dgv25n16	Chr.1:196808688 - 196941840 on Build GRCh38	Insertion	CFHR1 CFHR4
nsv467905	Chr.1:196883651 - 196925196 on Build GRCh38	Loss	CFHR4
dgv748n54	Chr.1:196805166 - 196964115 on Build GRCh38	Gain	CFHR1 CFHR2 CFHR4
nsv548801	Chr.1:196792630 - 196935320 on Build GRCh38	Loss	CFHR1 CFHR4 CFHR3
dgv13e55	Chr.1:196764003 - 196932623 on Build GRCh38	Gain	CFHR1 CFHR4 CFHR3
nsv1003503	Chr.1:196873141 - 196913266 on Build GRCh38	Gain	CFHR4
dgv12e55	Chr.1:196762018 - 197042447 on Build GRCh38	Gain	CFHR1 CFHR2 CFHR4 F13B CFHR5 CFHR3
nsv826019	Chr.1:196853574 - 196922573 on Build GRCh38	Loss	CFHR4
dgv756n54	Chr.1:196884203 - 196911597 on Build GRCh38	Loss	CFHR4
nsv528460	Chr.1:196573437 - 197477572 on Build GRCh38	Gain	CRB1 ASPM CFHR1 CFHR2 CFHR4 MIR4735 F13B KCNT2 ZBTB41 CFHR5 CFH CFHR3
nsv1159857	Chr.1:196847600 - 196936029 on Build GRCh38	Duplication	CFHR4
esv5113	Chr.1:196825198 - 196949317 on Build GRCh38	Loss	CFHR1 CFHR2 CFHR4
dgv540n100	Chr.1:196801553 - 196932623 on Build GRCh38	Gain+Loss	CFHR1 CFHR4
dgv528n100	Chr.1:196769481 - 196940503 on Build GRCh38	Loss	CFHR1 CFHR4 CFHR3
dgv544n100	Chr.1:196814484 - 196940503 on Build GRCh38	Loss	CFHR1 CFHR4
nsv548865	Chr.1:196868930 - 196927958 on Build GRCh38	Loss	CFHR4
dgv43e201	Chr.1:196794400 - 196942973 on Build GRCh38	Deletion	CFHR1 CFHR4
dgv751n54	Chr.1:196826893 - 196928264 on Build GRCh38	Loss	CFHR1 CFHR4
nsv3999	Chr.1:196748345 - 196951930 on Build GRCh38	Deletion	CFHR1 CFHR2 CFHR4 CFHR3
esv29961	Chr.1:196769767 - 196929534 on Build GRCh38	Gain	CFHR1 CFHR4 CFHR3
esv26552	Chr.1:196741188 - 196950140 on Build GRCh38	Gain+Loss	CFHR1 CFHR2 CFHR4 CFH CFHR3
esv3588478	Chr.1:196813225 - 196934743 on Build GRCh38	Loss	CFHR1 CFHR4
nsv442558	Chr.1:196854187 - 196932619 on Build GRCh38	Gain+Loss	CFHR4
nsv1000717	Chr.1:196854175 - 196897339 on Build GRCh38	Loss	CFHR4
esv3891004	Chr.1:196748507 - 196932623 on Build GRCh38	Gain+Loss	CFHR1 CFHR4 CFHR3
nsv1006432	Chr.1:196847588 - 196970577 on Build GRCh38	Loss	CFHR2 CFHR4
nsv1001657	Chr.1:196832513 - 196907989 on Build GRCh38	Loss	CFHR4
dgv133e212	Chr.1:196747283 - 196907907 on Build GRCh38	Loss	CFHR1 CFHR4 CFH CFHR3
nsv514032	Chr.1:196856007 - 196926935 on Build GRCh38	Loss	CFHR4
dgv88e199	Chr.1:196791346 - 196933087 on Build GRCh38	Deletion	CFHR1 CFHR4 CFHR3
dgv28n111	Chr.1:196832872 - 196947229 on Build GRCh38	Deletion	CFHR2 CFHR4
nsv517662	Chr.1:196741937 - 196968406 on Build GRCh38	Gain+Loss	CFHR1 CFHR2 CFHR4 CFH CFHR3
nsv1013679	Chr.1:196865976 - 196916555 on Build GRCh38	Loss	CFHR4
nsv471354	Chr.1:196888082 - 196918632 on Build GRCh38	Gain	CFHR4
nsv470770	Chr.1:196853899 - 196951018 on Build GRCh38	Loss	CFHR2 CFHR4
esv3575405	Chr.1:196858712 - 196907907 on Build GRCh38	Gain	CFHR4
dgv57n27	Chr.1:196853900 - 196951018 on Build GRCh38	Loss	CFHR2 CFHR4
nsv498701	Chr.1:196813583 - 196935541 on Build GRCh38	Loss	CFHR1 CFHR4
dgv553n100	Chr.1:196843365 - 196940503 on Build GRCh38	Gain+Loss	CFHR4
dgv3n31	Chr.1:196812967 - 196921215 on Build GRCh38	Gain	CFHR1 CFHR4
nsv428290	Chr.1:196621707 - 196992672 on Build GRCh38	Gain+Loss	CFHR1 CFHR2 CFHR4 CFHR5 CFH CFHR3
esv3891015	Chr.1:196851286 - 196898103 on Build GRCh38	Loss	CFHR4
nsv8691	Chr.1:196741634 - 196958768 on Build GRCh38	Gain+Loss	CFHR1 CFHR2 CFHR4 CFH CFHR3
esv34855	Chr.1:196854213 - 196917640 on Build GRCh38	Loss	CFHR4
dgv753n54	Chr.1:196841868 - 196932623 on Build GRCh38	Loss	CFHR4
nsv1130635	Chr.1:196799084 - 196923949 on Build GRCh38	Deletion	CFHR1 CFHR4
dgv750n54	Chr.1:196818614 - 196898103 on Build GRCh38	Loss	CFHR1 CFHR4
dgv541n100	Chr.1:196801995 - 196913266 on Build GRCh38	Gain	CFHR1 CFHR4
dgv539n100	Chr.1:196798270 - 196947657 on Build GRCh38	Gain	CFHR1 CFHR2 CFHR4

More Information

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

Gene Ontology Categories:

Process(es)

lipid transport

Function(s)

lipid transporter activity