HsaEX6035568 @ hg19
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:19194]
Coordinates
chr1:185897678-185931791:+
Coord C1 exon
chr1:185897678-185897799
Coord A exon
chr1:185902681-185902956
Coord C2 exon
chr1:185931650-185931791
Length
276 bp
Sequences
Splice sites
3' ss Seq
AATTTTTTGATTTCACACAGAGC
3' ss Score
6.79
5' ss Seq
AAGGTACAG
5' ss Score
8.04
Exon sequences
Seq C1 exon
AGAATCTGCCAGTGTGAACTTAGATATTGCAAAGGTCACTTTGTCTGACGAAGGTTTCTATGAATGCATTGCTGTCAGCAGTGCAGGTACTGGACGGGCACAGACATTTTTTGACGTATCAG
Seq A exon
AGCCCCCTCCGGTCATCCAAGTGCCTAACAATGTTACAGTCACTCCTGGAGAGAGAGCAGTTTTAACATGTCTCATCATCAGTGCGGTGGATTACAATCTAACCTGGCAGAGGAATGACAGAGATGTCAGACTGGCAGAGCCAGCGAGAATTAGGACCTTGGCTAATCTGTCATTGGAGCTAAAGAGTGTGAAATTCAACGATGCTGGAGAGTATCATTGTATGGTTTCTAGTGAAGGTGGATCATCAGCCGCTTCAGTTTTCCTCACAGTGCAAG
Seq C2 exon
AACCACCCAAAGTCACTGTGATGCCCAAGAATCAGTCTTTCACAGGAGGGTCTGAGGTCTCCATCATGTGTTCTGCAACAGGTTATCCCAAACCAAAGATTGCCTGGACCGTTAACGATATGTTTATCGTGGGTTCACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'12-14,'12-12,13-14=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.043 C2=0.083
Domain overlap (PFAM):
C1:
PF0004720=ig=PD(42.9=57.1)
A:
PF0767911=I-set=WD(100=95.7)
C2:
PF0767911=I-set=PU(52.3=93.8)
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:
AGAATCTGCCAGTGTGAACTT
R:
CTGTGTGAACCCACGATAAACA
Band lengths:
264-540
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)