HsaEX6063477 @ hg38
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130428358-130430604:+
Coord C1 exon
chr9:130428358-130428489
Coord A exon
chr9:130429557-130429685
Coord C2 exon
chr9:130430284-130430604
Length
129 bp
Sequences
Splice sites
3' ss Seq
ACCATGCCCCTGCCTCCCAGATG
3' ss Score
8.65
5' ss Seq
TAGGTACGG
5' ss Score
7.82
Exon sequences
Seq C1 exon
ATGTGGACGAGTGTGCGTGGGATGCTCACCTCTGCCGAGAGGGACAGCGCTGTGTGAACCTGCTCGGGTCCTACCGCTGCCTCCCCGACTGTGGGCCTGGCTTCCGGGTGGCTGATGGGGCCGGCTGTGAAG
Seq A exon
ATGTGGACGAATGCCTGGAGGGGTTGGACGACTGTCACTACAACCAGCTCTGCGAGAACACCCCAGGCGGTCACCGCTGCAGCTGCCCCAGGGGTTACCGGATGCAGGGCCCCAGCCTGCCCTGCCTAG
Seq C2 exon
ATGTCAATGAGTGCCTGCAGCTGCCCAAGGCCTGCGCCTACCAGTGCCACAACCTCCAGGGCAGCTACCGCTGCCTGTGCCCCCCAGGCCAGACCCTCCTTCGCGACGGCAAGGCCTGCACCTCACTGGAGCGGAATGGACAAAATGTGACCACCGTCAGCCACCGAGGCCCTCTATTGCCCTGGCTGCGGCCCTGGGCCTCGATCCCCGGTACCTCCTACCACGCCTGGGTCTCTCTCCGTCCGGGTCCCATGGCCCTGAGCAGTGTGGGCCGGGCCTGGTGCCCTCCTGGTTTCATCAGGCAGAACGGAGTCTGCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357-'129-135,'129-134,132-135=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.009
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=95.6),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.5),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=37.0),PF0764510=EGF_CA=PU(0.1=0.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATGCTCACCTCTGCCGAGAG
R:
TTTGTCCATTCCGCTCCAGTG
Band lengths:
256-385
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains