H-InvDB - Transcript view HIT000454139

	H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID:	HIT000454139	Accession number:	DQ587608	Created date:	26-Mar-2013	Last modified:	27-May-2015
Definition:	Non-protein-coding transcript, uncharacterized transcript.

Transcript original information

Accession number		DQ587608.1
CAGE tag ID		NA
EST ID		NA
Clone Number		NA
Experimental resources		NBRC ; HGPD ; Antibody (PSAP) ; Catalog (PSAP);
Sequence data provider		NA
Annotation project		NA
Length of cDNA		30[bp] (No. of exon:1)[A:7 T:5 G:11 C:7]
Devision		HUM
Molecular type		RNA
Library origin	Cell type	NA
	Tissue type	NA
	Develpmental stage	NA

Sequence quality information

TGGCAGAGTACGAGCCCGTGCTGATCGAGA

Gene structure information

H-Inv cluster ID		HIX0008908
Genomic location	Chromosome	10
	Location	10q22.1
	Position	73578826- 73578855
	Strand	-
Possible duplicated location(s)		NA
Gene structure		1 exon(s)
Database links	RefSeq	NA
	Ensembl	NA
	Entrez Gene	NA
	KEGG GENES	NA
	GeneCard	PSAP; *GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links		H-DBAS; G-integra; cDNA-genome alignment;

Gene function information

H-Inv ID		HIT000454139
H-Inv cluster ID		HIX0008908
Accession number		DQ587608.1
CAGE tag ID		NA
EST ID		NA
Transcript feature		NO;
Coding potential		Non-protein-coding;
Definition		Non-protein-coding transcript, uncharacterized transcript.
Classification of non-protein-coding transcripts		Classification: Uncharacterized transcript
		Type: NA
		NA
Experimental evidence		NA
PubMed ID		NA
Gene family/group	H-Inv gene family/group ID	NA
	Gene family/group name	NA
	Evidence motif (InterPro) ID	NA
Gene symbol/name	HGNC symbol	PSAP
	HGNC aliases	"sphingolipid activator protein-1"
	HGNC name	prosaposin
	DDBJ	NA
	UniProt	NA
EC number		NA
GGDB (GlycoGene Database)	Gene symbol	NA
	Familly	NA
	Designation	NA
	Expression	NA
KEGG metabolic pathway		NA
Protein-protein interaction (PPI)	H-Inv protein ID	NA
	No. of interaction	NA
	Interaction partner(s)	NA
	BIND	NA
	DIP	NA
	MINT	NA
	HPRD	NA
	IntAct	NA
Database links	RefSeq	NA
	Ensembl	NA
	Entrez Gene	NA
	KEGG GENES	NA
	GeneCard	PSAP; *GeneCards is provided free to academic non-profit institutions.
	etc	Human-Gene diversity Of Life-style related Diseases;
Curation status		Auto-annotated
Notes		NA
Related H-InvDB links		Gene family; Similarity Search Tool; TACT;

fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome.

Disease/pathology information

Last modified:27-May-2015

Disease relation		Disease name: Combined SAP deficiency (611721); Disease name: Gaucher disease, atypical (610539); Disease name: Krabbe disease, atypical (611722); Disease name: Metachromatic leukodystrophy due to SAP-b deficiency (249900);
Related information in OMIM		OMIM ID: 176801; Title: PROSAPOSIN
Co-localized orphan diseases		NA
Disease related mutation		MutationView: 176801; JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Literature-Extracted GENe-Disease Associations (LEGENDA)	Gene name	NA
	Disease	NA
	Substance	NA
Related H-InvDB links		DiseaseInfo Viewer; LEGENDA;

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information

Single Nucleotide Polymorphism (SNP) and indel
Location	Variation	dbSNP ID	Strand	CDS/UTR	Translation
11 .. 11	G/A	rs146925179	-
17 .. 17	C/T	rs1049882	+
18 .. 18	C/T	rs138716613	-

Microsatellite (Short Tandem Repeat, STR)
No data available

Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available

Repeat
No data available

Database links	Human-Gene diversity Of Life-style related Diseases(H-GOLD);
Related H-InvDB links	VaryGene; Repeat Mask Viewer;