Special

HsaINT0074184 @ hg38

Intron Retention

Gene
ENSG00000140511 | HAPLN3
Description
hyaluronan and proteoglycan link protein 3 [Source:HGNC Symbol;Acc:HGNC:21446]
Coordinates
chr15:88881357-88887345:-
Coord C1 exon
chr15:88887175-88887345
Coord A exon
chr15:88881726-88887174
Coord C2 exon
chr15:88881357-88881725
Length
5449 bp
Sequences
Splice sites
5' ss Seq
AAGGTAGGC
5' ss Score
10.08
3' ss Seq
CACCCTGTCTCTCCCCCAAGACC
3' ss Score
8.44
Exon sequences
Seq C1 exon
TTTGCCCTGGGGCCCCAGCCTGGCCCGGGTCACCCTGGCATGAGGAGATGGGCCTGTTGCTCCTGGTCCCGTTGCTCCTGCTGCCCGGCTCCTACGGACTGCCCTTCTACAACGGCTTCTACTACTCCAACAGCGCCAACGACCAGAACCTAGGCAACGGTCATGGCAAAG
Seq A exon
GTAGGCGACCTCCTGCACCCGGCTCTTTGCTCCCCTGGGTGACCTAGACCTCCTTGGCTCTTGCTGTGATCTGAGGGTTCCAGGCTGGGACAGGGACAGCAGCCCTGTTCCAGCAGGGCCCTTGTAGTGGGCCAGCTTGCTTCTCAGACAGGGGAAGGGGTGAGTTCATTTTCCTGTGTTCGCCAGCCCCTTCGTCATGGGGCCCAATTCACTTAGGCTTTTTACTTTCCCTAAAAGTCTTGCCAGTTGTTCAAGGTCCAGCTTGAATGTGTCCTCCCCTGGTCCCCCCAGTGGAAAGGGGACCTGGGGTCGAATAGATGTGAGTTTGAATGTTTTTTTTGTTTGTTTTTGAGATAAAGTCTCACTCTGTTGCCGAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAAGCATGTGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGACCTCCCAAATTGCTGGGATTACAGGCATAAGCCACCATGCCTGGCCCGAGTTTGAATCTTATAATTCTACCTCTTACTAGCTGTGTGGCCTTGGGCAGGGAACGTTTTAAAGTAGCAGTTATTGTGCACCCAACATGGGTTGGGCGCGCTTCTAGATATTTTGCATATGTCGTCTCCTGTAATCACAAAAGCCCTGATGTAGGCAAGGGTGAAAATATACCTTTTTTTTTTTTTTTTTAAGATGGAGTCTCACTTTGTTGTCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCATCTGCCACCACACCTGGCTAATTTTTGTACTTTTAGTAGAAATGGGGGTTTCTCCATGTTGGCCAGGCTGGTCCTGAACTCTTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCAACGAGCCTTGCCGAAAATACACATTTTTAACCATTAGTGCAGCACGGGTGCTGACCAGGCTGAATTGATGCTGTCTGCCCTCACAGCCTGAAAGTAGATTCTATTATCATCCCTTCTCATAGATGAGCAAACTAGGCTCAGAGAGTTGATCCAGTTGTCCAGGTCAAACAGCTATTAAAAAGACAAAGCTGAGGGCTGGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGACTGAGGTGAGTGGATCACTTGAGGTCAGGAGTTCAAGGCCAGCCTGGCCAACATACCGAAACCCTCTACTAAAGATACAAAAAATTGGCCAGGCGCGGTGACTCACACCTGTAATCCCAGCACTTAAGGAGGCCGAGGTGGATGGATCACGAGGTCAAGAGATCAAGACCATTCTGACCAACCTGGTGAAATCCTGTCTCTACTAAAAATACAAAAGTAGCCGGGCGTGGTGGCAGGTGCCTTTAATCCCAGCTTCTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATACCACTGCACTCCAGCCTGAACGACAAAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACACAAAAAACAAAAAATTAGCCGGGTGTGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATTGCTTGAACCTGGGAGGAGGAGGTTGCAGTAAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGCCTCAAAAACAACAACAACAAACTTGTTCCACTTGTTTGTGGAAGGAACGAACCAGATGGCTGGTCTCAGTAATAGCCAGCACCTGCCATGAAGAGCGCACAGCCTGGTTCAGAGACGACACATGAGCCTGCAAGTGCAGTGCTGGGTGTTTCTCACCTTTCCCTCTGCCTTTGAGTAGATGATTGTGCCTGCAGAGGCATTTTCCCTCTTTTGATTAGTCTCCTAGGTCAGCTGTAACAAATTAACACAAACTTGGTGGCTTGAAACAACAGAAATGTATTCTCTCACTGCTTTAGGCACCAGAAATCCAAAATTAGTTTCACTGTGCAGAAATCGAGGTGCGGATAGGACTGTACCTCCTGTGGCTCTTGGGGAGAATCTGTTCTTGCCTTGCCTCTTCCGGTTCTGGTGGCTGCTGGCATTCCTTGGCTGTAGCTGCCTCACTGCAGGCTCTGCCTCCTTGGTCACGTGGTCTTCTCCTCTTTTATATGCAAATCTCCCTCTGCCTCCCTCTAAACAGGTACTTGCGCATTTGCATTTAGGGCCCACCTGGGAAATTCAGGATACCCTCCCCATCTCGACATCCTTAGTTTAACCTCATCTGCAAAGTCCATTTTGCTACATAATTAGGATTTAGGGTATTTTGGGAGGCCATTATTTAGCCCACCACACCCTTTTCCTTCAGAATTTATTTTGTTATACAAGCCCTACTTTATTTATTTATTTATTTATTGAGACAGAGTCTCGCTCTGTCACCTGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATCCGACACCATGCCTGGCTAATTTTTTGTATTTTTAGTGGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCGCCTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTACAAGCACTACTTTAATGAGATTTGCGGAATTTAAAAAACTTAAACTTCCTACTCATAGTTTCACTACACTACCAGGCCAACATTTCATTTTTGTCTTTCCCTTTTGTCCCTGAATATGTAAGCAAAGTCATATATAATCCCCCCACCCAGGGGAACCACTGTTAACTTTTTAGGTATCTCTTTCTAGCCTTTTCTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCACACCAGTGCAGTGGTGTGATCTCGGCTCACTGCAACTTCTGCCTCCTGGGCTCAAGAGATCCTTCCACTTTAGCCTCCTGAGTTAGCTGAGACTACAGGCGTGCACCACTGTGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCGTGTTGGCCACGCTAGTCTCGAACTCGTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGCACCTAGCTGAGCCATTCTTTTATGATTTAGAAAACTTTCTCCAACAAAAACCAGCTCATGTCATACATGTGATTTTTGTATTCTCCCTTATCACCTCATAGAATAGAACTCGTTTTCTAAGTCAATGATTGAATGTACATCTACCAGATTATTTTACATGGCTGTATAGTATTTTATCATATGGATGTACATTTTCATTTTATTCAGGTTAAAGCTTCAAAGGTAGTTTACTTAAGAGAGTTGGGAAGAACCAAGGAAGTGGCCCCTAAATGATAGCCCTGCTTCATATTTATTGGACACTTTCTGTGTGCCAGGCATCCTGCCTTACCTGATTTGAACCTTACCACAGCCCTCTGTAGGGACTGTAATTAACCCATTCTACAAATGGGGAAGCTGAGTCTTGACTTCCCTGGATTACACAGCTGGGAAAAGGTGGAACCAAGGGCAAGCCCGAATTGCCTGACTCCAAACCTCTGTACCTACTGCCTCTGCAGAGCAGGACAGCTCTAATCTGAATGAGCCTGAAAGTCCCCTGGAGGCTGGACCCCATTCCCAGAGTCTCTGAGGCACTGGGACCCCACAATGTGCATTTCTGACAAATTCCTGGTGATGCTAATGCTGCTGGCCCGAGGGCCACACTTGGAGACTTCTGCATATGGCAATCTGCTACATTAGGTATAGCTCTTTTTTAGCACGATTCCTCTACAGGGAACCTCCCTGTCTGTCTCCTGCTTACCCATGAGGCTGTCCCCTTGCCTCCACCTTTTTAATTAATTAATTTGTTTTTATTTTGTTTTTGGCAACAGAGTCTTGCTCTCTCACCCAGTTTGGAATGCAGTGGTGCGATCATGACTCACTGCAGCCTTGACTTCTGGGCTGAAACAATACTCCCACCTCAGCCTCCCGAGTAGCTGGGACCACAAGCATCTACCACCATACTCAGCTAGTTTTAAAAATTTTTTTGTAGAGACAGGGTCTCACTTTATTGCCCAGGCTGGTCTCAAACTCCTGGGCTGAAGCGATCCTCCTGTCCTGGCCTCTCAAAGTGTTGGGATTATAAGCGTGAACCACCGTGCCTGGCCCCTGTCCCCACCTTGAGTAAATCAAGCATGTCTTGAAGTCTAGACCCAAGAGAATGAATCAGTGAGGTCCCAACAGGGGCTCCCAAGTTAAAGATGAGGCAGCCTTAGCCTATGAACTTGATTCTTTTGTTGCATGTTGAGTTCTGTGTGTATTTGTAACTCTGAGCCGTGAGCGTAGTCTCCTTTAGAAGTTCTGCCCTTAGCTCAGTAGGCTGCTCCGTATTTGGGAAGAGTTATGGTGGACAGCTGGACCAGAGAGTAAAGCCAGGGCTGTGCTGTCCTCTGGCCAGTGTGGTGGGGAAGGAAACTCCGACGGATCCCTATCAGGGCCACTTGTCCTGGCCATGTACCTCATGTGGGGTGGCTCTTGTTGCCTGCTCCATTGGTTAGATTTTATGCATAGCAAACCACCCAAAACTTAGTGACTTCTTTAGGATGACAGCCATTTGTTTAGCTCATGATTCTGTGGGTCAGCATTTTGGAGTGGGCTCCATTTCTTCAGGTCTTGCGGTTGGGTCTTGCAGATGTGCCTGCCCATGGTGGGCAGGTCAGCTGGGGGCTGGTTGCTGTAGGATGGCCTCAGCTGGGGCGCCCTGTCTCTGTTCTGTGTATTCTCTCATCCTCTAGCAGGCAAGCCTGGCCATGTGCTCATGGTGGCTGGCAAAGTCCTAAAAAAAGAGTGGAAGCAGCAAGGCCCCCTGGGACCTATGCTCAGAGCAGGCATGATGGATAACAGTCACTTCCAAGGCATTCAGTTGGTCAAGCAAGTGGCAAGGCCAGCACAGATTCAAGGGGGTGGGGGAATAACTGTCATCTCTTGATGGAAGGAGATGCAAAGTCACATTGCAGAGCATGTGGATACAGGGAGGGGTGGAGCATGGTGGCCATTTTTGCAATCTGAGCCTGTAGGAGCCGTGGATGAGGGTGTGCGGTGGCCCTTGCAGGGGTACAGATGTGCTTCAGCAGGTCTCATCTGCACCCTGTCTCTCCCCCAAG
Seq C2 exon
ACCTCCTTAATGGAGTGAAGCTGGTGGTGGAGACACCCGAGGAGACCCTGTTCACCTACCAAGGGGCCAGTGTGATCCTGCCCTGCCGCTACCGCTACGAGCCGGCCCTGGTCTCCCCGCGGCGTGTGCGTGTCAAATGGTGGAAGCTGTCGGAGAACGGGGCCCCAGAGAAGGACGTGCTGGTGGCCATCGGGCTGAGGCACCGCTCCTTTGGGGACTACCAAGGCCGCGTGCACCTGCGGCAGGACAAAGAGCATGACGTCTCGCTGGAGATCCAGGATCTGCGGCTGGAGGACTATGGGCGTTACCGCTGTGAGGTCATTGACGGGCTGGAGGATGAAAGCGGTCTGGTGGAGCTGGAGCTGCGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000140511:ENST00000359595:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion (1st CDS intron)

No structure available
Features
Disorder rate (Iupred):
  C1=0.050 A=NA C2=0.005
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF0768612=V-set=WD(100=92.7),PF0019312=Xlink=PU(0.1=0.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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