HsaEX6056449 @ hg19
Exon Skipping
Gene
ENSG00000010327 | STAB1
Description
stabilin 1 [Source:HGNC Symbol;Acc:18628]
Coordinates
chr3:52557887-52558511:+
Coord C1 exon
chr3:52557887-52558033
Coord A exon
chr3:52558116-52558229
Coord C2 exon
chr3:52558316-52558511
Length
114 bp
Sequences
Splice sites
3' ss Seq
CACCCCTCTGCTGCTCCCAGGCG
3' ss Score
7.61
5' ss Seq
GATGTAAGC
5' ss Score
6.16
Exon sequences
Seq C1 exon
CAGGCAGTGCTGGCGCCTGAAGCCCCACCTGTGGCGGCAGGCGTGGGGGCTGTGCTTGCCGCTGGAGCACTGCTTGGCTTGGTGGCCGGAGCTCTCTACCTCCGTGCCCGAGGCAAGCCCATGGGCTTTGGCTTCTCTGCCTTCCAG
Seq A exon
GCGGAAGATGATGCTGATGACGACTTCTCACCGTGGCAAGAAGGGACCAACCCCACCCTGGTCTCTGTCCCCAACCCTGTCTTTGGCAGCGACACCTTTTGTGAACCCTTCGAT
Seq C2 exon
GACTCACTGCTGGAGGAGGACTTCCCTGACACCCAGAGGATCCTCACAGTCAAGTGACGAGGCTGGGGCTGAAAGCAGAAGCATGCACAGGGAGGAGACCACTTTTATTGCTTGTCTGGGTGGATGGGGCAGGAGGGGCTGAGGGCCTGTCCCAGACAATAAAGGTGCCCTCAGCGGATGTGGGCCATGTCACCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000010327-'73-75,'73-74,74-75=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.071 A=0.338 C2=0.054
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGCTCTCTACCTCCGTGCC
R:
TTGGTGACATGGCCCACATC
Band lengths:
255-369
Functional annotations
There are 1 annotated functions for this event
PMID: 20599701
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, competition binding, glutathione s tranferase tag, pull down. ELM ID: ELMI001568; ELM sequence: SVPNPVFG; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)