Special

HsaINT1006323 @ hg38

Intron Retention

Gene
ENSG00000126247 | CAPNS1
Description
calpain small subunit 1 [Source:HGNC Symbol;Acc:HGNC:1481]
Coordinates
chr19:36139575-36141220:+
Coord C1 exon
chr19:36139575-36140157
Coord A exon
chr19:36140158-36140996
Coord C2 exon
chr19:36140997-36141220
Length
839 bp
Sequences
Splice sites
5' ss Seq
GCGGTAAGC
5' ss Score
8.99
3' ss Seq
GTCCCCTTTTTTCCCCCCAGCAG
3' ss Score
9.64
Exon sequences
Seq C1 exon
TGCCATCCGGGCTGCTGCAGGCACTGGGAAAGGCAATCCAGCCTCAATCCTCGCCACAGACACGGGCGACTGTCCCCCAGCGTGTGAGTCAAACCATACTCCAGGCCTCCAGGAGGTGTTTGTCGCGACAACACCTGCAGAGGGCCCGTGCGGAGTCCCTTAGTGAGCGGACCGAAAACCGCCACCCTGGAAGGATATTGGCATGCCCTAGGGTGAAAATTCACACTACGACACTCGGGGGGTGGGTCCCCTCCGAGTTCTCGTCCGCGGGTGCCTCCACCCAGACCTGAGGGGTGTCGGGAAGACCCCCGCCTACCGAGTCAGGGCGGGATTAAGACCTCCGGCGCTGGAAACGCGTAGGGCGGGGCCCAGACCTGGATCCAGCTAGCCGGGCGGTGTGGGGTGCGCATGCGCAATGTCCGCTTCGGCTCTAGGACCGCGCGGGCGACAGCAGGGCCGCGGTGCAGTGTCCGACCCGAGAGTTGCGGCCTGAGTCACCGGCCCCGCCCTCCGGAGCCGGACGCTGCGGGAGGCCCGGGAGCGGCAGTGGAACCGACTCCCAGAACTCCGGACGTGTGCGGCG
Seq A exon
GTAAGCGCCCGGCCCGTACCCCCTCCGCACCCCGCAACTCCGACTTTGGCGGCCCCCAGACCCGGCGAAACCGTGAAGTCTCGGCCTCAGGAGCCCCCCAGATCCATGGTCTCAGATTCGAACCCTCAGACCTGTTCGATCTCCTTTTATGCCGTCCCGGGGACCCTTCTCCACCCTCTGTCTCATGATCCAAAATACAGGCCCATAGGTTTCAGAGATACCCTGTGAATTCTTCCTTGGGGTGTCCTGAACCGCGATCGTAGATCTGTGCCCCCAGTTCCAGCGGGGAACCCCATTGTCCGGGAACCCAGAGCTCACAGCCACGATCTTAGACCCGAGCCCACAGAGCCAGAGGTGACACTGGAATCCTGCCGCTGGGAATACCTAAATTCTCAAGCCCACATTTGGGATTTCCTAAACCCCGCCCTGGGGCCCTTTAGGCCGTGGATGTTTGCTCCGCGCCCATGACCTGCCAAGGACCTCTACATTCAGGCTGGGCTCTGGATCTCACATTCTAGCGCCCAGACATGTCGGGAACGCCTTACGCCAACTTGGGGTCCCCACCAAGAGAACCCCCACCAGATCTGCACCCTCCCCTTCACGCGTGCACCCAGTCCAGGCTCCCTCAAGCCCCACGGGTGCCTTTTAGACCTGAGGAGGTTGCAAACCTGATCCCCCATACCTGCCCCACCCATCCGCGGACAACCCGCCCTCGCAAACTCAGACCCCCACCCGGAGGCTTCAGATTCCTCCCAGGTCCAGCTGCCGGAAATGCGTGTTTGAAGGGAGGGTGTGGGCTCAGGGGCGAAGCACCCACTGGTCCCCTTTTTTCCCCCCAG
Seq C2 exon
CAGTGAGTCGCAGCCATGTTCCTGGTTAACTCGTTCTTGAAGGGCGGCGGCGGCGGCGGCGGGGGAGGCGGGGGCCTGGGTGGGGGCCTGGGAAATGTGCTTGGAGGCCTGATCAGCGGGGCCGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGTGGTGGAGGCGGCGGTGGCGGTGGAACGGCCATGCGCATCCTAGGCGGAGTCATCAGCGCCATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126247:ENST00000246533:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact

5' UTR

No structure available
Features
Disorder rate (Iupred):
  C1=NA A=NA C2=0.183
Domain overlap (PFAM):

C1:
NA
A:
NA
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTGTCCGACCCGAGAGTTG
R:
CTGATGGCGCTGATGACTCC
Band lengths:
342-1181
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains