HsaEX6063510 @ hg38
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130354763-130356257:+
Coord C1 exon
chr9:130354763-130355044
Coord A exon
chr9:130355746-130355854
Coord C2 exon
chr9:130356088-130356257
Length
109 bp
Sequences
Splice sites
3' ss Seq
GGAGTGTGTTCTGCCTGCAGTGC
3' ss Score
6.46
5' ss Seq
CCAGTGAGT
5' ss Score
8.28
Exon sequences
Seq C1 exon
TCCCACCTACCATCGAGGGCGCCGGTGGAAGACCATACGTGGTGAAGGCTGTGGCTGGGAGGCCTGTGGCGCTGGAGTGCGTGGCCAGAGGCCACCCGTCCCCCACCCTCTCCTGGCACCACGAGGGGCTGCCCGTGGCAGAGAGCAACGAGTCGCGGCTGGAGACAGACGGGAGTGTGCTGAGGCTGGAGAGCCCGGGGGAGGCATCCAGTGGCCTGTACAGCTGTGTGGCCAGCAGTCCTGCCGGGGAAGCCGTCCTGCAGTACTCCGTGGAGGTTCAGG
Seq A exon
TGCCCCCACAGCTCCTGGTGGCTGAAGGCTTGGGACAGGTGACCACCATCGTGGGACAGCCCCTGGAACTTCCCTGCCAGGCCTCAGGCTCCCCAGTACCCACTATCCA
Seq C2 exon
GTGGCTGCAGAATGGCCGCCCAGCCGAGGAGCTGGCTGGGGTGCAGGTGGCCTCGCAGGGGACCACACTGCACATTGACCATGTGGAGCTGGACCACTCAGGCCTCTTCGCCTGCCAGGCCACCAATGAGGCGGGCACTGCCGGGGCCGAGGTGGAGGTGTCTGTGCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357-'44-43,'44-42,45-43
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.295 A=0.027 C2=0.155
Domain overlap (PFAM):
C1:
PF0767911=I-set=WD(100=90.5)
A:
PF0767911=I-set=PU(34.9=81.1)
C2:
PF0767911=I-set=PD(64.0=94.8)

Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGTGGCCTGTACAGCTGTG
R:
CATGCACAGACACCTCCACC
Band lengths:
244-353
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains