HsaEX6063508 @ hg19
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:21293]
Coordinates
chr9:133231475-133233873:+
Coord C1 exon
chr9:133231475-133231644
Coord A exon
chr9:133233221-133233375
Coord C2 exon
chr9:133233777-133233873
Length
155 bp
Sequences
Splice sites
3' ss Seq
CTGACTCTTTCCCTTCCCAGAGT
3' ss Score
10.22
5' ss Seq
CAGGTATGT
5' ss Score
9.8
Exon sequences
Seq C1 exon
GTGGCTGCAGAATGGCCGCCCAGCCGAGGAGCTGGCTGGGGTGCAGGTGGCCTCGCAGGGGACCACACTGCACATTGACCATGTGGAGCTGGACCACTCAGGCCTCTTCGCCTGCCAGGCCACCAATGAGGCGGGCACTGCCGGGGCCGAGGTGGAGGTGTCTGTGCATG
Seq A exon
AGTTCCCATCGGTCAGTATCATTGGGGGTGAGAACATCACAGCTCCTTTCCTGCAGCCTGTGACCCTCCAGTGCATAGGGGATGGGGTGCCCACCCCAAGCCTCCGTTGGTGGAAGGATGGTGTAGCCCTGGCAGCCTTTGGGGGGAACCTACAG
Seq C2 exon
ATTGAGAAGGTGGACCTGAGGGACGAGGGCATCTACACTTGTGCTGCTACCAACCTGGCTGGGGAGAGCAAGAGGGAAGTGGCGCTGAAAGTTTTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357-'7-9,'7-8,8-9=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.114 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0767911=I-set=PD(64.0=96.5)
A:
PF0767911=I-set=PU(58.4=86.5)
C2:
PF0767911=I-set=PD(40.3=93.9)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGGAGCTGGCTGGGGTG
R:
CCAAAACTTTCAGCGCCACTT
Band lengths:
242-397
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)