HsaEX0030179 @ hg19
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:19194]
Coordinates
chr1:186056575-186057408:+
Coord C1 exon
chr1:186056575-186056777
Coord A exon
chr1:186057064-186057145
Coord C2 exon
chr1:186057277-186057408
Length
82 bp
Sequences
Splice sites
3' ss Seq
ATAGTATCTTTTTCTTTTAGGTA
3' ss Score
9.63
5' ss Seq
ATGGTGAGC
5' ss Score
8.27
Exon sequences
Seq C1 exon
TGCCCCCAAGCATTAAAGACCATGACAGTGAATCTCTTTCTGTAGTTAATGTAAGAGAGGGAACTTCTGTGTCTTTGGAGTGTGAGTCGAACGCTGTGCCACCTCCAGTCATCACTTGGTATAAGAATGGGCGGATGATAACAGAGTCTACTCATGTGGAGATTTTAGCTGATGGACAAATGCTACACATTAAGAAAGCTGAG
Seq A exon
GTATCTGACACAGGCCAGTATGTATGTAGAGCTATAAATGTAGCAGGACGGGATGATAAAAATTTCCACCTCAATGTATATG
Seq C2 exon
TGCCACCCAGTATTGAAGGACCTGAAAGAGAAGTGATTGTGGAGACGATCAGCAATCCTGTGACATTAACATGTGATGCCACTGGGATCCCACCTCCCACGATAGCATGGTTAAAGAACCACAAGCGCATAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341_MULTIEX3-4/6=3-5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.029 A=0.000 C2=0.022
Domain overlap (PFAM):
C1:
PF0767911=I-set=PU(68.6=86.8)
A:
PF0767911=I-set=PD(29.1=89.3)
C2:
PF0767911=I-set=PU(46.2=93.3)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCACCTCCAGTCATCACTTG
R:
CACAGGATTGCTGATCGTCTCC
Band lengths:
168-250
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
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)