HsaEX0029246 @ hg38
Exon Skipping
Gene
ENSG00000140511 | HAPLN3
Description
hyaluronan and proteoglycan link protein 3 [Source:HGNC Symbol;Acc:HGNC:21446]
Coordinates
chr15:88878967-88881725:-
Coord C1 exon
chr15:88881357-88881725
Coord A exon
chr15:88879418-88880610
Coord C2 exon
chr15:88878967-88879269
Length
1193 bp
Sequences
Splice sites
3' ss Seq
TTTACCTTCTCTGTCTCTAGGAT
3' ss Score
13.57
5' ss Seq
GAGGTCAGA
5' ss Score
5.24
Exon sequences
Seq C1 exon
ACCTCCTTAATGGAGTGAAGCTGGTGGTGGAGACACCCGAGGAGACCCTGTTCACCTACCAAGGGGCCAGTGTGATCCTGCCCTGCCGCTACCGCTACGAGCCGGCCCTGGTCTCCCCGCGGCGTGTGCGTGTCAAATGGTGGAAGCTGTCGGAGAACGGGGCCCCAGAGAAGGACGTGCTGGTGGCCATCGGGCTGAGGCACCGCTCCTTTGGGGACTACCAAGGCCGCGTGCACCTGCGGCAGGACAAAGAGCATGACGTCTCGCTGGAGATCCAGGATCTGCGGCTGGAGGACTATGGGCGTTACCGCTGTGAGGTCATTGACGGGCTGGAGGATGAAAGCGGTCTGGTGGAGCTGGAGCTGCGGG
Seq A exon
GATGGGGCTGTGTGTCCTCACATCTCTCCCACATGTTAGGGAGGCAGTTCGGGGATAGAGGAAGGTGACCTGACTTTAGCCCCAGCCCGTCCCAGCTATGACATGTGGGTAAATGCCTCATCCCCCTTAGAGCCCTGGGCCTCTCAGGTGTAAAATGGGGTATCACAATCTTTCCTCCTTTACCTCCCTCAGAGGCAATGAGGATAAGATGTATGTCCTTAAAATGCGTTCTCTGTCTTTGCCACCAGTGTCCACATGGCTTACATGGTGGCTCAGAGGGGCCGCATTCCTCATTCTTGAAGTTGGGGTGGCAGTGGAGTTGGGGAGAACCTGCAAGAGTCATTGGTCTGGGGTCTGCAGGGGCAGCCTAGAGAAACAGGGAGCCCTCACCCCATTCCCGGGGCTTCAAGGGCTAGGAATTTGGGGTGGAACCAGGCATGAAATAGTCCCCCTGCAAACACACGTAGAGGCTGCAAGCTGACTGTCAGGGCCCATGGGCTTCTCTGCCGCCCAACCTGGCTTTGCCCAGGTGCCTGGCTTCCGGCCCTGGTGAGATCGGAGGTTTGGGGCTCAGGCTGTTCCTGGGTCCTTGGCCACACGGAGGAGATTCCAAAGTGTCCTTCCCAGACCCCTAGGGTCACCTCCACTCCCTAAGGTTTCATTGACTTGGTAGAGACTACATCTCAGAAGTTTAAAAACTTTTTATTAGAGTAAAATTTCAAACACGAACATATCTTTTCAGGGCCTGTGGCCTCTATCAGACCCTGACCACAAGGAGAGAAACCGCCTGCCCCAGACCTCCCTGCCCTTGAGCCTCCTTTATGGAAGGCCCTTCCCCAACCCTCTCCCCACGGCCTCTAGGGCCTCTCCTTCTCCTGAAAATCATCTGCCACACGTGGAAAGTTCCTTGCATTTTCCTAGGAAATTTCCACATTCATAATAACGTAGACGATCGGGTCCCAGCTAACGAGTGGGGAGCTGGGAGTCAAACCTGGCCCCTAGAGCCCAAAGCCCGGGCCTGTCTGGAGAAGATGGCACAGCCTCACTGGGGGTCTGGCGACAGCCTTGCGGATTAGGTTGGGGACATTGTTGGGGACATTAATGGACTAATTAATTACCTTAACTCATGGATGTTTTCTGAGTACTGCTGTGAACCAGCTGAGTCCCAGGAGAGAGGCGGCAACGGACAGGAG
Seq C2 exon
GTGTGGTCTTTCCTTACCAGTCCCCCAACGGGCGCTACCAGTTCAACTTCCACGAGGGCCAGCAGGTCTGTGCAGAGCAGGCTGCGGTGGTGGCCTCCTTTGAGCAGCTCTTCCGGGCCTGGGAGGAGGGCCTGGACTGGTGCAACGCGGGCTGGCTGCAGGATGCCACGGTGCAGTACCCCATCATGTTGCCCCGGCAGCCCTGCGGTGGCCCGGGCCTGGCACCTGGCGTGCGAAGCTACGGCCCCCGCCACCGCCGCCTGCACCGCTATGATGTATTCTGCTTCGCTACTGCCCTCAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000140511-'10-11,'10-8,13-11=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.005 A=0.042 C2=0.045
Domain overlap (PFAM):
C1:
PF0768612=V-set=WD(100=92.7),PF0019312=Xlink=PU(0.1=0.0)
A:
NO
C2:
PF0019312=Xlink=WD(100=94.1),PF0019312=Xlink=PU(0.1=0.0)
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
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:
CAAATGGTGGAAGCTGTCGGA
R:
CGGAAGAGCTGCTCAAAGGAG
Band lengths:
351-1544
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development