Special

HsaINT0115731 @ hg38

Intron Retention

Gene
Description
nebulin related anchoring protein [Source:HGNC Symbol;Acc:HGNC:7988]
Coordinates
chr10:113646923-113650141:-
Coord C1 exon
chr10:113650037-113650141
Coord A exon
chr10:113647028-113650036
Coord C2 exon
chr10:113646923-113647027
Length
3009 bp
Sequences
Splice sites
5' ss Seq
CAGGTATGT
5' ss Score
9.8
3' ss Seq
GTTTTTGATGCACCCGGCAGGGT
3' ss Score
3.68
Exon sequences
Seq C1 exon
GTGAGGTACCATCAACAATATCAAAAAGAAATGAGGGGAATGGCTGGTCCAGCCATTGGAGCTGAGGGCATCTTGACAAGGGAATGTGCAGACCAATATGGCCAG
Seq A exon
GTATGTGATAAAATGATCTCCTGACCTGCTCTTTTCCATGTTTGGCCCATTCTAGGCTGTGACACAGCTATGACAATTTAATCAGGGGTGGGGCTTTGGTTTATCTTTACCTTTTTTATGAAAGGTAGATTTTCCAAGATAGAAAGTAGTGGACAAACAATTGCACAGGGCTCAACTTGACCCACTTAGGAAAACAGATTGAGGCACTTTCTTTTTTTAAATTAATAAATGACTTATACCAATATGGTGGCTTGGCCAAGAAGAAAGCATTCCTATCTGTCCATTGAAGAACAGTCGCTAGGACTAAGATTGGCTAAGCTTAGCTGGTCTCTATCATAAGCAACATAGAGATCAAAATGCATCTTGAAAAATATTGAGCATTTCACTGAGTAGTGGTGCTCATTTTCTTAGAAAGTGAATTTTTTTTATCTAGGTTGGTAGATAAATCAGTATGCCAGAGAATGCAAACCCTTTTTCCAATTTCACTTCTCAGATGAACTACATCTTGACAGGGAGTAAAAAAAGATTAAGATGACAATCACAAGCTAATTATTATTTGCACATCCCTCTGTCTTTTCTGGTACTAGCCAGGTGTTGTAGGGTAGAAAGGAAGCATTATTGTTCACAGTTGCAAGTGAAGAACATTGGAAGAGCAAGTGTGTGTATTGGAAGAATACATTCCATGGGTTTAAGTGATTTTTATTCATAATTGGACAGTTGTTTGAATTATTTGTCAGTAAGTAGACTCTCTACAACATATATGATTTAGAAAACCACAATGAATTTGTTTCTCTTCTTTAGAAAGACACATTGCCATAGTTAGGCATATGCTCATATGAGTCTTAGGATGTGTGTGAAGGTCGGTTGGGACTCCTTTGAAAATGTCTGCCAGAGCAAAAATGCTTGGTTTTGAATTTAAAAGGCCATTTAATCAAATTCTCTAAGTTAATTAAGTGGTCTTTTAGTGCTTTAAACCAGTGAAAAATGTTTTTACTGGTTTTGTATTTTAAATATATTGTTTGGAAAGCTCAGGACAACTTTTAAAAATCAGCTTAAAAAAAATCTGGCTTCTATATTTGGCAAAAAGTATTTTGTCCTGTATTTGGCCAATCCTATCTACCAGTAGTTATAAGACACATGTATCATTTCATATGTGTACCTAGACATGTCTGTAGGTACAGATGAAATGTAACTTCATAGTATCATAGCTGGTTCTTGATTAGTAGGACGATTTGATTGAAGTTTTCAGTCCTGAAAATAACAAATGCAAGAATCAAAGTGAGTGTTGTTTGATAGCACCTTCAGCAGCTGTTGAGAGGACTCAGTCTAGCATGGCATTTCACTGTTGTGATTTAGCATGACTCGCCAGGGCATGAGGAGGAGGGAGCGAGAGAGAAGCCAGCAGGCAGATAACTATAAATATCTGTAGTGCCTTAAATGCCAACCAATTCATTCTTCTTTTTAACAAGTAACTAGACTTGTTAAAAGGATTATACCATGTAATCAACAGGATTAGGTGTCTTGAAAAAAGATTAACACTTACAACATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAACTAAAATAAAGTTACAAACACAAAACTATAGAGCAGAATGGACAAAGCCATAGAGCAGATTACCAAAGAATTTGAGAACCTTTTAAAAAAACTTAACCTTTTTTTACTTATTATATTTGGCCAGAACCTTCTGTCAGCCAGGCAAAAAGGAGAACTCGGGCTAAATAGTTTTCATTGTTGGATAACGGGGAGCCTGGACTTTCTAATCTGACCCAACTATTTTATTTTAGAAAATGTGTGTGCCACAGTCAAAGCCCTGGTGCTGGAGCTGGACAGGCCCCTGGCTTGGAGGAGGCCACAGAGAGATGGAGTCGTGAGCCTAATGAGGGCACCATATGGGCTGTTTCAGATTTATGCAAAAAGTGCAGTGAAAACACAGAGGACTCTGCCTGGGGCAGGTCCAGGGGTGAAGGAGGACTCAGGGACTTCCACGAGGAGACTGTCCCTAAGCTGGGTCTTAAAGTACATCTGGCTGCCAGGGAGGGGTTATCCGTCATGTGATGACAGTGTCATGAAAGAGAAGGTTTTCCTTTCTGGGAGTGGATGGATGGTGTGGGGAAGATAAAAGAAAGGATTAAGACAAAGATTATAATCCTTAGTCTGAAATATACATTTAGTCCCATTTCAGATAATCTTATGGTAATTTGAGGTTTTCCTCCCATATTACAAACATTGTTTAATACTCCTTTTCTGGTTACATGACACATACCATTGGGGAAGGCAGTACCACTGGGGGAGACAGTACCACCGGGGGAGACAGCACCACCGGGGGAGGCAGTACCACCGGGGGGAGACAGTACCACTAGGGGAGGAAGTACCACCGGGGGAGACAGTACCACTAGGGGAGGAAGTACCACCAGGGGAGGCAGTACCACTGGGGGAGACAGTACCACCGGGGGAGACAGTACCACCGGGGGAGACAGTACCACTTGGGGAGGCAGTACCACCGGGGGAGACAGTACCACTTGGGGAGGCAGTACCACCGGGGGAGACAGTACCATCGGGGGAGGTCTCTACATAGATCTGCCACTGGGTGTGAGTAAGGTAGTGTTCGAGACCTACTGGAAGACAAAGGACTTCCCTGGTTGTCAGTTAAAAAGTGAATATTTCATAACATATGGGCCTGGGAGAGTGGTAGAGTGTCTGATTTATCTAGTGGAAATAAGGATGATGATCATGATATCAGTTGCCATTATTTGGTGCTGACTATGTGCTGGGCACCAGTAAGTGGGCCTGACTCCAGGGTCTGCCATCTTAAAAGGAATGTTTAAACTACCACATGGACATCAGTGAAATACCCAAGGTGGATGAACCTCTGTGAGAATAGGCTCTATGAGTGACCATTGCTGAACCCCACCCATCTGGGGAGGGAAGCATTACTCACTGAAGTTTTTGATGCACCCGGCAG
Seq C2 exon
GGTTACCCGGAGGAGTATGAGGAGCACAGGGGAAAGGGCAGCTTCCCAGCTATGATCACTCCAGCATATCAGAACGCCAAGAAAGCTCACGAACTCGCTAGTGAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893:ENST00000359988:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.400 A=NA C2=0.589
Domain overlap (PFAM):

C1:
PF0088013=Nebulin=PD(35.7=28.6)
A:
NA
C2:
PF0088013=Nebulin=PU(55.2=45.7)


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