Special

HsaEX0056363 @ hg38

Exon Skipping

Gene
ENSG00000116521 | SCAMP3
Description
secretory carrier membrane protein 3 [Source:HGNC Symbol;Acc:HGNC:10565]
Coordinates
chr1:155260330-155261734:-
Coord C1 exon
chr1:155261657-155261734
Coord A exon
chr1:155260537-155260659
Coord C2 exon
chr1:155260330-155260450
Length
123 bp
Sequences
Splice sites
3' ss Seq
TAAGGTCTTTTCCTCAACAGCCA
3' ss Score
6.56
5' ss Seq
CAGGTACAG
5' ss Score
8.68
Exon sequences
Seq C1 exon
GACCCAGCTGTGATCCAGCACCGACCCAGCCGGCAGTATGCCACGCTTGACGTCTACAACCCTTTTGAGACCCGGGAG
Seq A exon
CCACCACCAGCCTATGAGCCTCCAGCCCCTGCCCCATTGCCTCCACCCTCAGCTCCCTCCTTGCAGCCCTCGAGAAAGCTCAGCCCCACAGAACCTAAGAACTATGGCTCATACAGCACTCAG
Seq C2 exon
GCCTCAGCTGCAGCAGCCACAGCTGAGCTGCTGAAGAAACAGGAGGAGCTCAACCGGAAGGCAGAGGAGTTGGACCGAAGGGAGCGAGAGCTGCAGCATGCTGCCCTGGGGGGCACAGCTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000116521-'4-8,'4-6,8-8
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=1.000 C2=0.805
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Primers PCR
Suggestions for RT-PCR validation
F:
GACCCAGCTGTGATCCAG
R:
CATGCTGCAGCTCTCGCTC
Band lengths:
178-301
Functional annotations
There are 1 annotated functions for this event
PMID: 19158374
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: mutation analysis, surface plasmon resonance. ELM ID: ELMI001334; ELM sequence: PPSAPS; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development