HsaEX6034043 @ hg38
Exon Skipping
Gene
ENSG00000132702 | HAPLN2
Description
hyaluronan and proteoglycan link protein 2 [Source:HGNC Symbol;Acc:HGNC:17410]
Coordinates
chr1:156620018-156624160:+
Coord C1 exon
chr1:156620018-156620158
Coord A exon
chr1:156623467-156623575
Coord C2 exon
chr1:156623807-156624160
Length
109 bp
Sequences
Splice sites
3' ss Seq
CCACTCTTTGTGCCCTGCAGACG
3' ss Score
9.61
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
GGGCTCAAGTTCCAGGGTTTTAAGGTGCTTGGAACTCCCAGGAGCCTGGCAAACCTTCATCCAGAACCTCTTCCTCAAGCAAGACAAAAAGCTGCTAAGCACTGCTCCCTCCGTCTCTGTGAAGAGACCAGCTTCTAACAG
Seq A exon
ACGGTGCCGGGCTGACCCCCCATCATGCCAGGCTGGCTCACCCTCCCCACACTCTGCCGCTTCCTTCTTTGGGCCTTCACCATCTTCCACAAAGCCCAAGGAGACCCAG
Seq C2 exon
CATCCCACCCGGGCCCCCACTACCTCCTGCCCCCCATCCACGAGGTCATTCACTCTCATCGTGGGGCCACGGCCACGCTGCCCTGCGTCCTGGGCACCACGCCTCCCAGCTACAAGGTGCGCTGGAGCAAGGTGGAGCCTGGGGAGCTCCGGGAAACGCTGATCCTCATCACCAACGGACTGCACGCCCGGGGGTATGGGCCCCTGGGAGGGCGCGCCAGGATGCGGAGGGGGCATCGACTAGACGCCTCCCTGGTCATCGCGGGCGTGCGCCTGGAGGACGAGGGCCGGTACCGCTGCGAGCTCATCAACGGCATCGAGGACGAGAGCGTGGCGCTGACCTTGAGCTTGGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132702-'2-12,'2-10,4-12=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.017
Domain overlap (PFAM):
C1:
NA
A:
PF0768612=V-set=PU(3.3=13.8)
C2:
PF0768612=V-set=PD(98.3=97.5),PF0019312=Xlink=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:
TCCAGAACCTCTTCCTCAAGCA
R:
GATGAGGATCAGCGTTTCCCG
Band lengths:
252-361
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains