Special

HsaEX6094107 @ hg19

Exon Skipping

Gene
ENSG00000187664 | HAPLN4
Description
hyaluronan and proteoglycan link protein 4 [Source:HGNC Symbol;Acc:31357]
Coordinates
chr19:19371622-19373605:-
Coord C1 exon
chr19:19373539-19373605
Coord A exon
chr19:19372255-19372372
Coord C2 exon
chr19:19371622-19371984
Length
118 bp
Sequences
Splice sites
3' ss Seq
GCCCCGTGCCCGCCCCCCAGGTG
3' ss Score
10.57
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
Exon sequences
Seq C1 exon
CCGGGTGTGCGGGGAGCGCAGTCCGGGTGCGTAGGGGCCGCTCGGCGGGGGCCGCGCGGGCAAGATG
Seq A exon
GTGTGCGCTCGGGCGGCCCTCGGTCCCGGCGCGCTCTGGGCCGCGGCCTGGGGCGTCCTGCTGCTCACAGCCCCTGCGGGGGCGCAGCGTGGCCGGAAGAAGGTCGTGCACGTGCTGG
Seq C2 exon
AGGGTGAGTCGGGCTCGGTAGTGGTACAGACAGCGCCTGGGCAGGTGGTAAGCCACCGTGGTGGCACCATCGTCTTGCCCTGCCGCTACCACTATGAGGCAGCCGCCCACGGTCACGACGGCGTCCGGCTCAAGTGGACAAAGGTGGTGGACCCGCTGGCCTTCACCGACGTCTTCGTGGCACTAGGCCCCCAGCACCGGGCATTCGGCAGCTACCGTGGGCGGGCTGAGCTGCAGGGCGACGGGCCTGGGGATGCCTCCCTGGTCCTCCGCAACGTCACGCTGCAAGACTACGGGCGCTATGAGTGCGAAGTCACCAATGAGCTGGAAGATGACGCTGGCATGGTCAAGCTGGACCTGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187664-'0-1,'0-0,2-1=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.016
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0768612=V-set=PU(97.5=95.1),PF0019312=Xlink=PU(0.1=0.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGTCCGGGTGCGTAGGG
R:
GGTGCTGGGGGCCTAGTG
Band lengths:
247-365
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains