Special

HsaINT0115723 @ hg38

Intron Retention

Gene
Description
nebulin related anchoring protein [Source:HGNC Symbol;Acc:HGNC:7988]
Coordinates
chr10:113592194-113595727:-
Coord C1 exon
chr10:113595623-113595727
Coord A exon
chr10:113592302-113595622
Coord C2 exon
chr10:113592194-113592301
Length
3321 bp
Sequences
Splice sites
5' ss Seq
GACGTAAGT
5' ss Score
10.93
3' ss Seq
CTTTTGTTTTTCCAATCTAGAAA
3' ss Score
9.38
Exon sequences
Seq C1 exon
CGCATGTATAGATCTGGAGATGCAGAATCCCTGCACAGATACACCCTGATCCCCGACCATCCCGATTTCACCCGAGCTCGCCTCAATGCGCTGCATCTGAGTGAC
Seq A exon
GTAAGTGAACTGGTGGTTCATGGAACGTGTGCCCACTTTTGTAAAATGATCTGTGCCCAATGTGGATTTCGTTTTTTTAAAAAAAAAAGTTCTAGGAAGGAGGACTTGGAACAGAAAGGACACTGAACTGAGAAACTGTTTGTGTGACTTTCAGTCACTTTCCTCAGTGGTCCTCGTTTTTGTTTTTTTTATCTGCAAAATGGTAATGGGCTGAGCTAAACTGAGATTCTTTCCAGCTCTAAAATTCTGACTTGGGTATGGCTCCAAAGATCTCAGTGATGTGCTGGGTAACCATGAGGGGAGTGGTCCCCTGGCCCTAGTGGGTGTAGACACCTGCTCTTTTTGTTTCCTGGACCCCTCTCTGTAGTCATTCAGAGTAGTGTCACTGGAGATAGAGTGGCTCTATCTCACCCCACAGTTTGGAAAGATGCTGCAATGGTAGCCCATCCCGTCCAAATGCAGCTCGCTCCTTTGTGCATGGGACTGTGGCCTCCAACACTTTCGTTTCCCTTGGACATGTGCCCTTTGCGTGCATAACCAAGCTACTGTTTCCTAAACCCAGGCTTGTTGTTAGCAGGGGTTGGAGGCCCCTGGTTGTAATAGAATAGGCGGCCGCTCGGCCAGCAAAGCTGTGATCCTTGGATAACAGGTAGAGAGACGGCAGAATCAAAAGACACTGTCAGATCAGAATAACACAGGCTGAGTGTGTTGGCCTGGGGCAGCGTAGGGCCTCCCAGAGTCCGGCCATTCTTCCCTCCCTGGCCTGGCCATTGTGTCCTGGGGCTCCGTGCAGATCAACAGCTGCTACCGTTCACCCCAGAGGTGGCTGCCTTGCAGGGATTGGCGAGAGGCGCCTTCTAGTTAGCGTGTGTATTAGTTTGTTGCGTTTGTAAAGCCCTGTGGGATCCCATGCAGTGAATGCGATGGTGCTTTGTAAATATGAGTTATTATGACCATTTGATGCTTTTGAGGGATGTGCAGGGGATAATTTTAGAACAGCAGCTCTGGTGGGCTGACCTCCATCTGGGGAAGCAGGACCTCCCCCTCAGCAGAGCCTGCACAAAACATCTATCTCATTAATGCTTCAAGGATGGGGGAAGGCAAGGCCTCCATTTGAGGAACGATTGGAGACCCATCGCTGTAGAAAGTGGGATAAAGCTGCCAGTGCATTTGGGGCCCGGCTTGAGGAGGAGAGCCACCCCAGGCTGGTGATGGAAGCATCTTCCCTCTCACAAGGGATGCCGGTCTGCAGAGTCCTGGAGCTGAAATTAGCCACCAGGGTATGCGGATATGGATAACTCATGAACCTCTTTTGAAAGAGCACTTCTTCGGGGGCGTGTAGAATACGCACAATTGGATCAAGTGCTCTGTGAGGAAGATGTGGAGGGAAAGTGACCTTCCTGGGCAAAGAAAGCCATTGAGATGTGTAAGGCAGCCGAAATAACTAAAAATCAAATGACTCTAATGTGTGAGGATGAGGACAAAACTGTGCCCACTGTGATAAAGAAGAGGAACGCCCAGGGTTCCAAATCAAAGCGCCTACGGAATCTAAAGACTCCCAGTGGCAAGGCAAAAACCTCAACAGAATAAAAAACTCAGGGAGGAAGTGATCACAACCAAGCAAATAGTACACAGGGAGAAGTCGCCCAGAGAAAGGGGCCTGCACACTCGGGAGACCCCCGATCTGGGCCATGCTTTCTAGTTGACCCTGAGTTACAGAGACTCAGAAGCTGGGGTGCATTGGACACCAAAGTGGGGTGACATTGGACTTCGATGTTGCATCAAGTTTGGTGTCAATAACCAGCCCAGATCTGGTGCGGGCATTCTTATTAGGAAGGCATGGTGTGCCCCTTAGAGAGAGTGATCAGGGTTTTGACTCTATTTGCTACTCTAACCTTTGTGGGGCCACCCAAACAGAAAGCAGAATGCTACAGAGGATCATCAGTCTGTCATAATCTGAACATTCCTACATGTCTTTCAGTCCTAACTGCTAAACTCAATGATGACCCAGTAAATCTAATCATTTTGGCTCTGTGATTCATCAGTTAGGTGATTATCCCAGGAACGAACGGTTCTGCATTTCCAGGGCCTAGAACACAGTAGACGTTTGGCTCAGGGTTTACGGCATCGGGTGTTGGAGTCAGAGGCGAGGATGGAGGTGAAGGTGGTGTGATCTGCAGTACAGAGAAATGATGAGATCCGCCATGCTTGGCCCAAGCACTTTGTGGTCCTCTCTAGTTCCAGGCCCAGTTGTGGGATGGGGTGGGGCACTTTGCTTTTCATCTGCCACTCCTCCTTTGCTTAATCCCCCCAATCCCCCGTAGAACAGAGTGCCAGCCTTGACCTCCATTTCCAGGAGACAAAAGGACGGTTCTTAAGGGCCCCCTGACCTGCTGTAGCTCGTGGAACGAGTGAGCAACCGACACGGTCTGGGGCTGTCACTTTGTCATCTGTTGGTGATGCGCCTCTCCTGCTGTCTCCCTTCTCTGTGGCTGAATAAAGAACAGCCCTCCACTGGGATCTCCAGATGCCTCCTTTTATAGAGCCATTCCCTTATCTTGAAAAAAAAATATTAGCTACATGAAGGCACAGAAGATTTTGATGCCTCTATCGGTGATGTGGGTCTACCTGAGGACTAAGAGGATATGATTACAGACTCCCAGAGGGCGTGTGAGAACAACTTGAAAAGGGAAAAAATGAAAGAGGAAGATATGAAACACATGGGTCAGGTACTCGGTCAGGTGCTTGACAATAAATTTAATTCAGGTGAAGGCTCTTCCCTTCGTGCAGGCACCAGGGGTGTATATGAGATGCAGCATGCCTCATAGTGATGGTGCAAGGCATGGCATCAAAGCCAGGCTGAGGCCCCTCCGGATGTCAGTGGAGCTAACAAACACATGAGTGCCAAGGCCCAAGGAACAGCACTTTCAGCATGTAGGAAGAAACTGGATTCTGGAAGCTTGAATTCTGGCACCTAGAAGCTGCAAACCCGAAGCACTGAAAGTGAATGCAAAGACAGGAAGGAGTGGGGTGGAGGCTTCTGATACCAAGTGGGTGTCGCAAATGAGCCATACCCGAAGATCACAAGCCCCACAGGAGCAGGGCCTAATGGGTGGGCGGGTTGGGGGCTTAGAGCTGAAGCCTTTTACGGCCAACCCCACCAATCCCAGTGCTAGGGAGTCGCCAAGGTGGACATGGAGCTATAGGCTGTGCCGTCCTAGGAACCAACAAAGGTTAAGAACCACTCCTGCTGAGTACCAGCAACATGGAAGACAGTGGAGTGACTGCCTGCTTACTCATGCTTTTGTTTTTCCAATCTAG
Seq C2 exon
AAAGTCTACAGAAACTCCTGGGAGCAGACCCGGGCTGGCAGTTATGACTTCAGGCTGGATGCCATCCCCTTCCAGACTGCCCGGGCATCTAGGGAGATCGCCAGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893:ENST00000359988:38
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
PF0088013=Nebulin=PU(55.2=45.7)
A:
NA
C2:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(55.2=44.4)


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

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development