Special

HsaINT0074186 @ hg38

Intron Retention

Gene
ENSG00000140511 | HAPLN3
Description
hyaluronan and proteoglycan link protein 3 [Source:HGNC Symbol;Acc:HGNC:21446]
Coordinates
chr15:88877288-88879269:-
Coord C1 exon
chr15:88878967-88879269
Coord A exon
chr15:88878257-88878966
Coord C2 exon
chr15:88877288-88878256
Length
710 bp
Sequences
Splice sites
5' ss Seq
AGGGTGAGT
5' ss Score
9.25
3' ss Seq
TCACGCCCCCTTTCCCCCAGGGC
3' ss Score
10.68
Exon sequences
Seq C1 exon
GTGTGGTCTTTCCTTACCAGTCCCCCAACGGGCGCTACCAGTTCAACTTCCACGAGGGCCAGCAGGTCTGTGCAGAGCAGGCTGCGGTGGTGGCCTCCTTTGAGCAGCTCTTCCGGGCCTGGGAGGAGGGCCTGGACTGGTGCAACGCGGGCTGGCTGCAGGATGCCACGGTGCAGTACCCCATCATGTTGCCCCGGCAGCCCTGCGGTGGCCCGGGCCTGGCACCTGGCGTGCGAAGCTACGGCCCCCGCCACCGCCGCCTGCACCGCTATGATGTATTCTGCTTCGCTACTGCCCTCAAGG
Seq A exon
GTGAGTGGAATAGCCAAGCGCGGGCCTGTGGGTTTGGTGGCCACCTGGGACCTGTGAGAGGGCAGCTTCTGGGGAGCTCTGGCCCCCTCTGCTGGCTCTGCTGGTACTGCCACCTGGAGGCCAAGAGCACCAGCCACCCTAGAAGCAGCATCTGGTTGAGTTTTGAGTGCTTTGCTGCTGCTGCGTTATGCAGGGCATAAATCATTGGTTTCTTCATTCATCAAATGTTTACTGAGTGCCTACCATATGCTGGGGCCTAGACTAGGCTCTCGGGAATCACAGACGAATAAAACACAGCCTGTCTTCACAAAGCAGCTCATTTCGTAGGAAGATGAACAAGTAAAAACAGAAACTGGTTCAGTGTCATATGCCAAGCCCTTGGAAAAGTGTCTGACACATAGTAGGTGTTCAGTAAATGACCGAATGGGCAAGAGACTCTGACTGGTCCAGCCTAGGTGGGGTGCCCACCCACCTAAATAGGGAAGGGTGGTGGGGGAGTGCAGACATGTCTGGAGGGACCTGGGTTCTATGGCAGGTGGGACAGAGCTCTCTGGGACAGGGTGAAGATTAGAAAGTGTTCTCTGCAGATGCCTGCAGTATGGTAGCTCCCTGGGCTCAGACGGGTCTTTGGGGCTGGCATCTCTGCAGACCCCGCTGTGCTCTCTGGCTGCCCCCTGCGCTGTACGGCACTCACGCCCCCTTTCCCCCAG
Seq C2 exon
GGCGGGTGTACTACCTGGAGCACCCTGAGAAGCTGACGCTGACAGAGGCAAGGGAGGCCTGCCAGGAAGATGATGCCACGATCGCCAAGGTGGGACAGCTCTTTGCCGCCTGGAAGTTCCATGGCCTGGACCGCTGCGACGCTGGCTGGCTGGCAGATGGTAGCGTCCGCTACCCTGTGGTTCACCCGCATCCTAACTGTGGGCCCCCAGAGCCTGGGGTCCGAAGCTTTGGCTTCCCCGACCCGCAGAGCCGCTTGTACGGTGTTTACTGCTACCGCCAGCACTAGGACCTGGGGCCCTCCCCTGCCGCATTCCCTCACTGGCTGTGTATTTATTGAGTGGTTCGTTTTCCCTTGTGGGTTGGAGCCATTTTAACTGTTTTTATACTTCTCAATTTAAATTTTCTTTAAACATTTTTTTACTATTTTTTGTAAAGCAAACAGAACCCAATGCCTCCCTTTGCTCCTGGATGCCCCACTCCAGGAATCATGCTTGCTCCCCTGGGCCATTTGCGGTTTTGTGGGCTTCTGGAGGGTTCCCCGCCATCCAGGCTGGTCTCCCTCCCTTAAGGAGGTTGGTGCCCAGAGTGGGCGGTGGCCTGTCTAGAATGCCGCCGGGAGTCCGGGCATGGTGGGCACAGTTCTCCCTGCCCCTCAGCCTGGGGGAAGAAGAGGGCCTCGGGGGCCTCCGGAGCTGGGCTTTGGGCCTCTCCTGCCCACCTCTACTTCTCTGTGAAGCCGCTGACCCCAGTCTGCCCACTGAGGGGCTAGGGCTGGAAGCCAGTTCTAGGCTTCCAGGCGAAAGCTGAGGGAAGGAAGAAACTCCCCTCCCCGTTCCCCTTCCCCTCTCGGTTCCAAAGAATCTGTTTTGTTGTCATTTGTTTCTCCTGTTTCCCTGTGTGGGGAGGGGCCCTCAGGTGTGTGTACTTTGGACAATAAATGGTGCTATGACTGCCTTCCGCCATCCCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000140511:ENST00000359595:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.045 A=NA C2=0.074
Domain overlap (PFAM):

C1:
PF0019312=Xlink=WD(100=94.1),PF0019312=Xlink=PU(0.1=0.0)
A:
NA
C2:
PF0019312=Xlink=WD(100=95.8)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
([1])
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGTTCAACTTCCACGAGGG
R:
GTGGCATCATCTTCCTGGCAG
Band lengths:
345-1055
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development