HsaEX6035508 @ hg19
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:19194]
Coordinates
chr1:186084390-186086755:+
Coord C1 exon
chr1:186084390-186084546
Coord A exon
chr1:186086126-186086247
Coord C2 exon
chr1:186086591-186086755
Length
122 bp
Sequences
Splice sites
3' ss Seq
CTTTGAAATGTGTCTTCTAGGCT
3' ss Score
7.98
5' ss Seq
AAGGTAGAA
5' ss Score
6.33
Exon sequences
Seq C1 exon
TTCCTCCATCTATTGCTCCGGGTCCTACCAACATGACTGTAATAGTAAATGTTCAAACTACTCTGGCTTGTGAGGCTACTGGGATACCAAAACCATCAATCAATTGGAGAAAAAATGGGCATCTTCTTAATGTGGATCAAAATCAGAACTCATACAG
Seq A exon
GCTCCTTTCTTCAGGTTCACTAGTAATTATTTCCCCTTCTGTGGATGACACTGCAACCTATGAATGTACTGTGACAAACGGTGCTGGAGATGATAAAAGAACTGTGGATCTCACTGTCCAAG
Seq C2 exon
TTCCACCTTCCATAGCTGATGAGCCTACAGATTTCCTAGTAACCAAACATGCCCCAGCAGTAATTACCTGCACTGCTTCGGGAGTTCCATTTCCCTCAATTCACTGGACCAAAAATGGTATAAGACTGCTTCCCAGGGGAGATGGCTATAGAATTCTGTCCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'84-83,'84-82,85-83=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.094 A=0.357 C2=0.036
Domain overlap (PFAM):
C1:
PF0767911=I-set=PU(55.6=94.3)
A:
PF0767911=I-set=PD(43.3=92.9)
C2:
PF0767911=I-set=PU(60.2=94.6)
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:
CTATTGCTCCGGGTCCTACCA
R:
GGGAAATGGAACTCCCGAAGC
Band lengths:
243-365
Functional annotations
There are 0 annotated functions for this event
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)