Special

HsaINT0086976 @ hg38

Intron Retention

Gene
ENSG00000076826 | CAMSAP3
Description
calmodulin regulated spectrin associated protein family member 3 [Source:HGNC Symbol;Acc:HGNC:29307]
Coordinates
chr19:7606476-7608264:+
Coord C1 exon
chr19:7606476-7606571
Coord A exon
chr19:7606572-7608125
Coord C2 exon
chr19:7608126-7608264
Length
1554 bp
Sequences
Splice sites
5' ss Seq
TCGGTGAGG
5' ss Score
8.99
3' ss Seq
GACCTGGCTCCCATCTGCAGATC
3' ss Score
10.14
Exon sequences
Seq C1 exon
ACCGTCCGGCGGCTGCAGGAGAAGACCGAGCAGGAAGCGGCCCAGCGAGCCTCTCCAGCAGCCCCTGCAGACGGGGCGGCCCCGGCGCAGCCCTCG
Seq A exon
GTGAGGCCAGGGCATAGAACCGTCAGAAGGATGGGGGACCGGAGATCTGGGAGGGCAGGGCTGTGCTTCCTGGACACTCCTGAAGTGGGGAGGGGGCTAGAGGTGACACACTCTCTCTTTCTTCCCCCCTCTCTCAATCTCTCTGTGCCCTGCCCGTCCCCTGTGCCGGTACCCGCTGCCCTCCTCTCTGCCTCTCTGGCCTCAGTGCCCTACGCGCTGGTACTGGAAGCTGGTTCCTGTAAGTGGGGCTGTCTGTCCGCCCCGTCTGCCTGCCCTGCTTGTAGCTCTGTCTGTCTGTATGTCTGTTTCTGCCTGCCTGTCTGCGCGCCCTCTCATACCTCCCCAAGCTGTGAGCAAAGGAGGTTGGACCCCAGTCCTGGGAGACAGGGAGAACCCCTCTGTGAACCAAGAGAAGGGTAGAATCTCGGCCATTAACTGAGAGGGCAGACCCCTCCCCCAGCGAACTGATGGGTGGGGACGAACTTCCCCTCCCGTTATTCAGAAGGGCAAGCCCTCCCCGTTCCCATTAATGAAGAGGGTGGGACCCCCTGAACCTGTCCCCCTTAGCCGAGGTGGGGAGACCACATAAATTTCTGAAGGGGGGACCTGCAGCCCATCACAAACGTGGATCCTGACCCTAGCAGGCAGGGCACCCTCTGGCCAAGGGGAAGACCCTCCAATGCAGAAGAAGATAGAATAACTTTCCTAACTGAGACCCCCAGCTTCCCTAGAGAAAAATCCCAGCTTTGAAAAGGAGGAGGAGGCCCATCCCTGAAGCTGGAAGTTGAAATTTCTCTCTTCCCTGAATGAGCTGTGTGACCTTGCAGAAGTATCTAAACCTCTCTGTGCTTCATATAAATTACTCCCATAGTAGATAAACAAGGAGGAAGTGGGGGAGGTTTTGGGCTGGCTGGCGTCCCCACCTTTGCTCACTCCTTCCCCCACCCTGGGGCCTGGGTTGGGAGGTTCCCTTCCTGCCTACCCGCTTCCTCTGCATCCTCTCCCCAAGCTGGGGGCCTGGGTCTTTTGTGGGAGGAGGATTCCCCGCATAAGAGGGGGTTCCTACTCTGTGGGGTCCCTTGGGGCTGGGAGGAGCTGGGGTTCGCGAAGCCGGCCAGAGCAGTCAGGGAGCTGGACGGCCGGGGCTCAGGACCAGGGTCAGGGCTACCCCCTCCCCCCCAAGGTGGGCTTGGGGGCCCAGCAGGTCAGCACCCCTCCCCCTTGCTGATGGCTGCTCCTCTCCCCCCAGCACGCAATTGCCTTCTGTTTGAAGGAGTCGGGGAGCAAACCCCCCATGGTAATGTATCCCCCGCCCCGGGGTCCCAGGAGTCCCTGTCCCCAGCCCCCGCTGCTGGCCTGGCTGCTCGAAGACATCTCCTCTGCCTCTTGCTGCTGCCCCTCCCCTGCTCCAGGCTGGCCCCCCAACTCTGTCTCTGGGACCCCCAGCTTCCCGCCCCCTCATGGCGGAAACCCCAGGCCTCCCTGCCCAGCCTGCATGACCGCTGACCCTGGGGGCCAGCCTGGCCACTCACCTGACCTGGCTCCCATCTGCAG
Seq C2 exon
ATCCGATACCGCAAGGACCGTGTGGTGGCGCGACGTGCCCCCTGCTTCCCGACGGTGACCAGCCTCCAGGACCTGGCCAGTGGGGCCGCGCTGGCCGCCACCATCCACTGCTATTGTCCCCAGCTGCTTCGACTTGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000076826:ENST00000160298:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.625 A=NA C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF119713=CAMSAP_CH=PU(48.2=85.1)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCAGGAGAAGACCGAGCAG
R:
CCTCAAGTCGAAGCAGCTGG
Band lengths:
222-1776
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