HIX0008908: Prosaposin isoform b preproprotein.
Chromosome: 10
Position: 73576055..73611082 (35.0Kbp)
Strand: -
Number of RASVs: 6
ORF:
Full-length
Truncated
NMD
UTR
Splice-site:
GT-AG
GC-AG
AT-AC
Other
NAGNAG
AS:
AS exon
AS junction
Polymorphism:
SNP
Locus and transcript information
AS locus
RASV
Hyperlink management |
HUGO |
OMIM |
Cell type |
Tissue type |
Development stage |
Sex |
Definition |
HIT000031837 |
PSAP |
611722 |
|
Skin, melanotic melanoma. |
|
|
Proactivator polypeptide precursor [Contains: Saposin-A (Protein A); Saposin-B-Val; Saposin-B (Sphingolipid activator protein 1) (SAP-1) (Cerebroside sulfate activator) (CSAct) (Dispersin) (Sulfatide/GM1 activator); Saposin-C (Co-beta-glucosidase) (A1 activator) (Glucosylceramidase activator) (Sphingolipid activator protein 2) (SAP-2); Saposin-D (Protein C) (Component C)]. |
HIT000196467 |
PSAP |
611722 |
fibroblast |
skin |
infant |
male |
Prosaposin isoform b preproprotein. |
HIT000014485 |
PSAP |
611722 |
|
brain |
|
|
Similar to Prosaposin isoform c preproprotein. |
HIT000049061_03 |
PSAP |
611722 |
|
dermoid tumor |
|
|
Similar to Prosaposin isoform b preproprotein. |
HIT000295641 |
PSAP |
611722 |
|
Placenta Cot 25-normalized |
|
|
Similar to Proactivator polypeptide precursor [Contains: Saposin-A (Protein A); Saposin-B-Val; Saposin-B (Sphingolipid activator protein 1) (SAP-1) (Cerebroside sulfate activator) (CSAct) (Dispersin) (Sulfatide/GM1 activator); Saposin-C (Co-beta-glucosidase) (A1 activator) (Glucosylceramidase activator) (Sphingolipid activator protein 2) (SAP-2); Saposin-D (Protein C) (Component C)]. |
HIT000334333 |
PSAP |
611722 |
|
Peripheral Nervous System, dorsal root |
|
|
Similar to Proactivator polypeptide precursor [Contains: Saposin-A (Protein A); Saposin-B-Val; Saposin-B (Sphingolipid activator protein 1) (SAP-1) (Cerebroside sulfate activator) (CSAct) (Dispersin) (Sulfatide/GM1 activator); Saposin-C (Co-beta-glucosidase) (A1 activator) (Glucosylceramidase activator) (Sphingolipid activator protein 2) (SAP-2); Saposin-D (Protein C) (Component C)]. |
Other ASV
Hyperlink management |
HUGO |
OMIM |
Cell type |
Tissue type |
Development stage |
Sex |
Definition |
HIT000030459 |
PSAP |
611722 |
|
Brain, neuroblastoma |
|
|
Proactivator polypeptide precursor [Contains: Saposin-A (Protein A); Saposin-B-Val; Saposin-B (Sphingolipid activator protein 1) (SAP-1) (Cerebroside sulfate activator) (CSAct) (Dispersin) (Sulfatide/GM1 activator); Saposin-C (Co-beta-glucosidase) (A1 activator) (Glucosylceramidase activator) (Sphingolipid activator protein 2) (SAP-2); Saposin-D (Protein C) (Component C)]. |
HIT000033332 |
PSAP |
611722 |
|
Eye, retinoblastoma |
|
|
Proactivator polypeptide precursor [Contains: Saposin-A (Protein A); Saposin-B-Val; Saposin-B (Sphingolipid activator protein 1) (SAP-1) (Cerebroside sulfate activator) (CSAct) (Dispersin) (Sulfatide/GM1 activator); Saposin-C (Co-beta-glucosidase) (A1 activator) (Glucosylceramidase activator) (Sphingolipid activator protein 2) (SAP-2); Saposin-D (Protein C) (Component C)]. |
HIT000191119 |
PSAP |
611722 |
fibroblast |
lung and skin |
|
|
Proactivator polypeptide precursor [Contains: Saposin-A (Protein A); Saposin-B-Val; Saposin-B (Sphingolipid activator protein 1) (SAP-1) (Cerebroside sulfate activator) (CSAct) (Dispersin) (Sulfatide/GM1 activator); Saposin-C (Co-beta-glucosidase) (A1 activator) (Glucosylceramidase activator) (Sphingolipid activator protein 2) (SAP-2); Saposin-D (Protein C) (Component C)]. |
HIT000191128 |
PSAP |
611722 |
|
|
|
|
Proactivator polypeptide precursor [Contains: Saposin-A (Protein A); Saposin-B-Val; Saposin-B (Sphingolipid activator protein 1) (SAP-1) (Cerebroside sulfate activator) (CSAct) (Dispersin) (Sulfatide/GM1 activator); Saposin-C (Co-beta-glucosidase) (A1 activator) (Glucosylceramidase activator) (Sphingolipid activator protein 2) (SAP-2); Saposin-D (Protein C) (Component C)]. |
HIT000195923 |
PSAP |
611722 |
fibroblast |
skin |
7-year old |
|
Proactivator polypeptide precursor [Contains: Saposin-A (Protein A); Saposin-B-Val; Saposin-B (Sphingolipid activator protein 1) (SAP-1) (Cerebroside sulfate activator) (CSAct) (Dispersin) (Sulfatide/GM1 activator); Saposin-C (Co-beta-glucosidase) (A1 activator) (Glucosylceramidase activator) (Sphingolipid activator protein 2) (SAP-2); Saposin-D (Protein C) (Component C)]. |
HIT000100400 |
PSAP |
611722 |
|
|
|
|
Prosaposin isoform b preproprotein. |
HIT000195922 |
PSAP |
611722 |
fibroblast |
skin |
7-year old |
|
Prosaposin isoform b preproprotein. |
HIT000195924 |
PSAP |
611722 |
fibroblast |
skin |
7-year old |
|
Prosaposin isoform c preproprotein. |
RefSeq
ID |
Definition |
NM_002778 |
Homo sapiens prosaposin (PSAP), transcript variant 1, mRNA. |
NM_001042465 |
Homo sapiens prosaposin (PSAP), transcript variant 2, mRNA. |
NM_001042466 |
Homo sapiens prosaposin (PSAP), transcript variant 3, mRNA. |
Ensembl
ID |
Definition |
ENST00000394936 |
Proactivator polypeptide Precursor [Contains Saposin-A(Protein A);Saposin-B-Val;Saposin-B(Sphingolipid activator protein 1)(SAP-1)(Cerebroside sulfate activator)(CSAct)(Dispersin)(Sulfatide/GM1 activator);Saposin-C(Co-beta-glucosidase)(A1 activator)(Glucosylceramidase activator)(Sphingolipid activator protein 2)(SAP-2);Saposin-D(Protein C)(Component C)] [Source:UniProtKB/Swiss-Prot;Acc:P07602] |
ENST00000402059 |
Proactivator polypeptide Precursor [Contains Saposin-A(Protein A);Saposin-B-Val;Saposin-B(Sphingolipid activator protein 1)(SAP-1)(Cerebroside sulfate activator)(CSAct)(Dispersin)(Sulfatide/GM1 activator);Saposin-C(Co-beta-glucosidase)(A1 activator)(Glucosylceramidase activator)(Sphingolipid activator protein 2)(SAP-2);Saposin-D(Protein C)(Component C)] [Source:UniProtKB/Swiss-Prot;Acc:P07602] |
ENST00000404083 |
Proactivator polypeptide Precursor [Contains Saposin-A(Protein A);Saposin-B-Val;Saposin-B(Sphingolipid activator protein 1)(SAP-1)(Cerebroside sulfate activator)(CSAct)(Dispersin)(Sulfatide/GM1 activator);Saposin-C(Co-beta-glucosidase)(A1 activator)(Glucosylceramidase activator)(Sphingolipid activator protein 2)(SAP-2);Saposin-D(Protein C)(Component C)] [Source:UniProtKB/Swiss-Prot;Acc:P07602] |
ENST00000357471 |
Proactivator polypeptide Precursor [Contains Saposin-A(Protein A);Saposin-B-Val;Saposin-B(Sphingolipid activator protein 1)(SAP-1)(Cerebroside sulfate activator)(CSAct)(Dispersin)(Sulfatide/GM1 activator);Saposin-C(Co-beta-glucosidase)(A1 activator)(Glucosylceramidase activator)(Sphingolipid activator protein 2)(SAP-2);Saposin-D(Protein C)(Component C)] [Source:UniProtKB/Swiss-Prot;Acc:P07602] |
ENST00000373120 |
Proactivator polypeptide Precursor [Contains Saposin-A(Protein A);Saposin-B-Val;Saposin-B(Sphingolipid activator protein 1)(SAP-1)(Cerebroside sulfate activator)(CSAct)(Dispersin)(Sulfatide/GM1 activator);Saposin-C(Co-beta-glucosidase)(A1 activator)(Glucosylceramidase activator)(Sphingolipid activator protein 2)(SAP-2);Saposin-D(Protein C)(Component C)] [Source:UniProtKB/Swiss-Prot;Acc:P07602] |
ENST00000394929 |
Proactivator polypeptide Precursor [Contains Saposin-A(Protein A);Saposin-B-Val;Saposin-B(Sphingolipid activator protein 1)(SAP-1)(Cerebroside sulfate activator)(CSAct)(Dispersin)(Sulfatide/GM1 activator);Saposin-C(Co-beta-glucosidase)(A1 activator)(Glucosylceramidase activator)(Sphingolipid activator protein 2)(SAP-2);Saposin-D(Protein C)(Component C)] [Source:UniProtKB/Swiss-Prot;Acc:P07602] |
ENST00000394934 |
Proactivator polypeptide Precursor [Contains Saposin-A(Protein A);Saposin-B-Val;Saposin-B(Sphingolipid activator protein 1)(SAP-1)(Cerebroside sulfate activator)(CSAct)(Dispersin)(Sulfatide/GM1 activator);Saposin-C(Co-beta-glucosidase)(A1 activator)(Glucosylceramidase activator)(Sphingolipid activator protein 2)(SAP-2);Saposin-D(Protein C)(Component C)] [Source:UniProtKB/Swiss-Prot;Acc:P07602] |
ENST00000394940 |
Proactivator polypeptide Precursor [Contains Saposin-A(Protein A);Saposin-B-Val;Saposin-B(Sphingolipid activator protein 1)(SAP-1)(Cerebroside sulfate activator)(CSAct)(Dispersin)(Sulfatide/GM1 activator);Saposin-C(Co-beta-glucosidase)(A1 activator)(Glucosylceramidase activator)(Sphingolipid activator protein 2)(SAP-2);Saposin-D(Protein C)(Component C)] [Source:UniProtKB/Swiss-Prot;Acc:P07602] |