Special

HsaINT0087118 @ hg38

Intron Retention

Gene
Description
lunapark, ER junction formation factor [Source:HGNC Symbol;Acc:HGNC:21610]
Coordinates
chr2:175993182-175995646:-
Coord C1 exon
chr2:175995558-175995646
Coord A exon
chr2:175993224-175995557
Coord C2 exon
chr2:175993182-175993223
Length
2334 bp
Sequences
Splice sites
5' ss Seq
AGGGTAAGG
5' ss Score
9.16
3' ss Seq
TGTTTCTGTTTGTATAACAGACA
3' ss Score
8.4
Exon sequences
Seq C1 exon
CTGTGAATTCCTTTGGACAATTGATGATATTTATCATTGTGCCCAGTTTCTACAAATAAAAGATGGGTGGATTATTTTCTCGATGGAGG
Seq A exon
GTAAGGTACTTTTCTTTACAGCTAGTTCTTGAGTCTAATATAAAAGTGTCACATAAAGCTATTTGTGAAAGTCTCCTTTGATTATAGCCTTGAATAGTAGTTTGCTATTTTCCTTAACTTTTTTCTTCTCTTTTGAATTACTTTTCTATTTTTTTATTTTAATACTTCCATTTGTTCTGTAGGTGTCCAATGCCTCTGTTTAACAGAATTATTTCACTTGGATGTATGAATTATTTTTATTTCTGTATTTCTGTATTTGTGTGCAAATGGCTATCTTGTTTTCTTATACTTCCTAAGTTTCAAGCTTATTTGAAAGGTAGTTGAAAGTAAGTATTCTAGGCCGGGTGTGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCATGAGTTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGTTGCGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATGGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGCTTGTGCCCCTGCACTCCAGCCTGGGTGACGGAGCAAGACTCAGTCTCACAAAAAAAAAAAAAAAAAAAAAAATTCTATACAAGACTTGTTTTTTACAGACTGTATCTTTTTACTTGAAGCTTATCATAAATATTGACTAAAGTCACACTGCCTGTGCTTTTAGAAATTATAGGTTAAACAAAATTAGAAATGCAGTTTGATTTTATTGGATAAGCTTTTAGAGGAAGTATCTCAAAGTTACAGCTCGAAAATATGAATTGTATAAATTATATAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGCAATCCCAGCTACGCGGGAGGCTGAGGCAGGATCGCTTCCATCCAGGAGGTGAAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCTGTCTCAAGAAAAAGAAAAAAAAATTATATAAATGCTCTTTTCAAAAGTAAGAGGAGATAAGGTAGTCTAGGATAAACTACTTATTTTTTTTTACTCCTTATTACCATAATAATAGAGTCTAACTATACTTGGTACACAATTTAGGTTTTGGGGTATTGCTGGAACAGCCTTGTTTTGGATCAGCATTATATTGACCCTGTTATGACCTTATAATAATCTGCCCAAGGATCAAATTTATCTCTTCTTGTTTTGTCTTTCATAATAGGTTGAACCATATGAAATTGCCAGTATTCAACTGCTTGGACTTAGCAAAATGTCAGTTTCATATGGTTAACCCTAATGTTAACAACTCTTATGGAAACTACAATGAACTGATATTCATTACCCTCTTGGATTGTTGAGTATGTAATTGGTAAATATTTTTTCAAGTGTTTTATGAGTGATTTTGGCTGGTTTTCATTCTAGATGTATAAAAAATATCATTGGCAAACAAGCTTTGCTATAATGAAGTATTCTTAGATGTCCTTTTAAAATCTGATCTGCAAAAAGTACTTTAGGAATTTAGAAAGAAGATAACCTGTTGATTTTGACCTCCAGAGTCTTAAGTGAACTTTTAGCAATAGCAAATCAGACCATTTTTAGTCTGTAATTTTTTTCAATGTGTTAATTCTTTTGAGTAATCATTCCTAAGAATTTTTTTTGGAGGAAAACGTGTGTTTTTTAAATTTTTTAATTTAATTTAATTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAATCAATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGATTGCAAGCGCATGCCACCACGCCCAGCTAATTTTTGGATTTTTAGTAGACCAGTTGGCGAAGCTGGTCTCAAACTCCTGACCCTAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCAGGCGTGAGCCACCGTGCGTGGCCAAAATTTGTTTCTTTCTAGAACGGTGTGTTCTATTGAGGTTAAGAATGGTAAAAATTGAGCTATCAGAATTAAAAGTCTTTCTAGGATTAAAACAGTTAAGTAGGGAAATGCTTATTTCTTTAATCTTACGTAGTTCTATTTGCAATTATAATTTTTATTTAAATAAATCTTAGTTATAAACAAGAATGCATATTTGACAAGATTTGAGAAAATTTAATTTTGAAATAAATGTTCTTTAATGATTATATCAAAATGTAAAGGTTTGTGATAAGTTTTAATGCTGTCTCTTGTTTCTGTTTGTATAACAG
Seq C2 exon
ACAAAACCTTCAACTGTAGAAGTTCTAGAAAGTATAGATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144320:ENST00000272748:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion (1st CDS intron)

No structure available
Features
Disorder rate (Iupred):
  C1=0.010 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF083957=7tm_7=PU(5.0=77.8)
A:
NA
C2:
PF083957=7tm_7=FE(9.4=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
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