HsaEX6035525 @ hg19
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:19194]
Coordinates
chr1:186050339-186055539:+
Coord C1 exon
chr1:186050339-186050526
Coord A exon
chr1:186051997-186052093
Coord C2 exon
chr1:186055378-186055539
Length
97 bp
Sequences
Splice sites
3' ss Seq
TTTCTTCATTTTTCCCTTAGATT
3' ss Score
11
5' ss Seq
ATGGTAAGA
5' ss Score
9.48
Exon sequences
Seq C1 exon
TGCCGCCAATTATCAAGGGAGCAAATAGTGATCTCCCTGAAGAGGTCACCGTGCTGGTGAACAAGAGTGCACTGATAGAGTGTTTATCCAGTGGCAGCCCAGCACCAAGGAATTCCTGGCAGAAAGATGGACAGCCCTTGCTAGAAGATGACCATCATAAATTTCTATCTAATGGACGAATTCTGCAG
Seq A exon
ATTCTGAATACTCAAATAACAGATATCGGCAGGTATGTGTGTGTTGCTGAGAACACAGCTGGGAGTGCCAAAAAATATTTTAACCTCAATGTTCATG
Seq C2 exon
TTCCTCCAAGTGTCATTGGTCCTAAATCTGAAAATCTTACCGTCGTGGTGAACAATTTCATCTCTTTGACCTGTGAGGTCTCTGGTTTTCCACCTCCTGACCTCAGCTGGCTCAAGAATGAACAGCCCATCAAACTGAACACAAATACTCTCATTGTGCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'65-64,'65-63,66-64=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=0.143 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0767911=I-set=PU(62.8=85.7)
A:
PF0767911=I-set=PD(34.9=90.9)
C2:
PF0767911=I-set=PU(58.0=92.7)
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:
CTGGCAGAAAGATGGACAGCC
R:
GCTGAGGTCAGGAGGTGGAAA
Band lengths:
180-277
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)