Hs02396469_cn

• Gene Symbol: LOC100506679
• Assay Reference Genome Location: Chr.22:43051848 on build GRCh38
• Cytoband: 22q13.2

Target Gene Details

• Entrez Gene ID: 100506679
• Gene Name: uncharacterized LOC100506679
• Gene Aliases: -
• Location: Chr.22:43038585-43052366 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC100506679	NR_125362.1

Target Gene Details

• Entrez Gene ID: 25809
• Gene Name: tubulin tyrosine ligase like 1
• Gene Aliases: C22orf7, HS323M22B
• Location: Chr.22:43039516-43089428 on Build GRCh38
• Assay Gene Location: Overlaps Intron 11 - Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TTLL1	NM_012263.4			NP_036395.1
	NR_027779.1
	XM_006724225.3			XP_006724288.1
	XM_011530108.2			XP_011528410.1
	XM_011530110.2			XP_011528412.1
	XM_017028751.1			XP_016884240.1
	XM_017028752.1			XP_016884241.1
	XM_017028753.1			XP_016884242.1
	AF104927.1			AAG29879.1
	AF173935.1			AAF91088.1
	AK095996.1
	AK315658.1
	AL096883.1			CAB51423.1
	AL096886.1			CAB51469.1
	AL136687.1			CAB66622.1
	AL589867.1			CAC34478.1
	BC014968.1			AAH14968.1
	BF433080.1	3	481
	BG911167.1
	CR456599.1			CAG30485.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2762124	Chr.22:43031130 - 43188670 on Build GRCh38	Gain	BIK TSPO TTLL12 MCAT LOC100506679 TTLL1
nsv1061240	Chr.22:43019575 - 43120127 on Build GRCh38	Gain	BIK LOC100506679 TTLL1
nsv834214	Chr.22:43037931 - 43217928 on Build GRCh38	Gain	BIK TSPO TTLL12 MCAT LOC105373051 SCUBE1 LOC100506679 TTLL1
nsv3645	Chr.22:43030260 - 43062792 on Build GRCh38	Insertion	LOC100506679 TTLL1
nsv834213	Chr.22:42935490 - 43094181 on Build GRCh38	Loss	PACSIN2 LOC100506679 TTLL1

More Information

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

Panther Classification:

Molecular Function -

microtubule or microtubule-binding cytoskeletal protein

Gene Ontology Categories:

Process(es)

epithelial cilium movement
protein polyglutamylation
axoneme assembly

Function(s)

ATP binding
tubulin-glutamic acid ligase activity