Hs02280394_cn

• Gene Symbol: TMC4
• Assay Reference Genome Location: Chr.19:54163050 on build GRCh38
• Cytoband: 19q13.42

Target Gene Details

• Entrez Gene ID: 147798
• Gene Name: transmembrane channel like 4
• Gene Aliases: -
• Location: Chr.19:54160095-54173250 on Build GRCh38
• Assay Gene Location: Overlaps Intron 9 - Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMC4	NM_001145303.2			NP_001138775.2
	NM_144686.3			NP_653287.2
	XM_011526486.2			XP_011524788.1
	AK124406.1
	AK314973.1
	AY236492.1			AAP69870.1
	AY263166.1			AAP78781.1
	BC025323.1			AAH25323.1
	BC032477.1			AAH32477.1
	BQ082417.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv515623	Chr.19:54102901 - 54179150 on Build GRCh38	Loss	MBOAT7 NDUFA3 TFPT TMC4 PRPF31 LENG1 CNOT3
nsv9751	Chr.19:54158885 - 54193528 on Build GRCh38	Gain	MBOAT7 TMC4 TSEN34 LENG1
nsv953613	Chr.19:54097214 - 54198733 on Build GRCh38	Deletion	MBOAT7 OSCAR NDUFA3 TFPT TMC4 PRPF31 TSEN34 LENG1 CNOT3
esv2718812	Chr.19:53184636 - 54322450 on Build GRCh38	Deletion	MIR519E MIR518A2 MIR519A1 VN1R2 MIR527 LILRA5 VSTM1 MIR517A MIR518E PRPF31 MIR520C MBOAT7 MIR520A MIR518B TPM3P9 ZNF813 PRKCG MIR373 BIRC8 MIR516A1 TSEN34 MIR516B2 LENG1 LILRA6 MIR371A ZNF845 LILRB2 MIR520G MYADM MIR1283-1 MIR4752 MIR371B LILRB3 ZNF761 MIR516A2 CNOT3 MIR517B MIR524 MIR522 MIR515-2 MIR520F TFPT MIR520H MIR498 NDUFA3 MIR512-2 ZNF765 MIR518D LOC284379 MIR519A2 ZNF331 CACNG8 MIR519D MIR517C MIR526B MIR518F MIR1283-2 ZNF818P TARM1 MIR372 MIR526A1 MIR521-2 MIR520D MIR518A1 CACNG7 DPRX ZNF525 MIR519B MIR523 MIR519C MIR512-1 TMC4 MIR515-1 FAM90A27P MIR520B MIR521-1 LILRB5 MIR526A2 CACNG6 OSCAR MIR525 ZNF665 MIR516B1 VN1R4 MIR518C NLRP12 MIR1323 RPS9 MIR520E MIR935 ZNF677 LOC105372457
nsv510774	Chr.19:54158011 - 54269511 on Build GRCh38	Deletion	LILRB5 MBOAT7 LILRB3 RPS9 TMC4 TSEN34 LENG1 LILRA6

More Information

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

Gene Ontology Categories:

Process(es)

ion transport