Special

HsaINT0027178 @ hg19

Intron Retention

Gene
ENSG00000118200 | CAMSAP1L1
Description
calmodulin regulated spectrin-associated protein family, member 2 [Source:HGNC Symbol;Acc:29188]
Coordinates
chr1:200822403-200824017:+
Coord C1 exon
chr1:200822403-200822623
Coord A exon
chr1:200822624-200823944
Coord C2 exon
chr1:200823945-200824017
Length
1321 bp
Sequences
Splice sites
5' ss Seq
CAGGTAACA
5' ss Score
8.88
3' ss Seq
AATTTATCGTGTTTTTTCAGTCT
3' ss Score
7.26
Exon sequences
Seq C1 exon
GCGTAAAACTGAGGAAGAACGTCAGAAGAAAGAAGATGAGAGAGCACGCAGAGAATTTATTAGGCAAGAATATATGAGGCGGAAACAACTGAAACTAATGGAAGATATGGATACAGTAATTAAACCCCGTCCTCAAGTAGTAAAACAAAAAAAACAGCGACCAAAATCTATTCACAGAGATCATATTGAATCCCCCAAAACACCAATAAAGGGTCCTCCAG
Seq A exon
GTAACATAGCTTATTATGAAGAGTCTGTTCATAAAAAACACCAGCTTGATTGGTTTGTCATACTAACTTGGTTGTACTTTGATGTGCAAAATTGGATACACAGTTTGAGATTGTGCATGCTCCCTTTTGGAAAACCAAAATGAGCAAATGAAGTTTTTAATAAATTAAATGTATTATGTGTGCATGCATATATTCAGTAGAACAAATGTGAATGCTAAAAATCAAATCTAAATATTAATCTATTAGGGAACTGTGCCCTCAGATATAATCTCCTTGAACTATTAACTGCCCTTTACATACTTATAAATTTAAATAAATGTTATATGCATGAAATGTACAAGAAACATGTTGGTATAATAAGGAATGCAAGATCAAGAGTTCACAAGTCCCTCCTTCAAGATAGAAATGGTTGAAAATCCAAACTTATAATATCTGGAGTTGAGAGAATATATTTTCTTTAAAAGTCAGTATACATACTCATTATTACTATTATTATTTTTTGAAACGGGGTCTCAGTCTGTTGCCCAGGCTAGAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCTCCACCTCCCTGGGTTCAGGTGATCCTCCCACCTCAGCCTCCTGGGTAGTTGGGACTACAGGTGAGTGCCACCATACCCAGCTAACTTTTTTGTATTTTTTGTACAGATGGGGTTTCTTCATGTTGTTCAGGCTGGTCTCGAACTCTTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGGTGTGAGTCACTGCGCCTGGCCATACTCTTATTTTTAAAAAAATCTTGGGGGGCAGGGATAAATTCGTAAAAATAAAAGAAATCTTTATTAAAACCAAATGCCATGGAAATTTTTTAGAGAATTCTCATAGTTATACTAAACCTGAGGAAAAATAACATAATATTGACTGTTTAAAGAGAACTCTGTTTTCAAGCCTGTAAAACTAATTGATATAATTTTCTACCTAGAATTTAGATATTATGAAATTTTTTTTTGTTATTGTTTTTTTCTTTAGGATCACAGTATCACGTCTCATATTAACACTTTCCTTTTGGAACGCAAGTTAGTTTTATCATTGTTTCCTAAAAGTAGGTTCCTTGCTAATTTTAAATAAATTGTGTATATATGCATGCAAGCATATTATGTGTTTAAAAGTACAGAGAAAAGGAAAAGAAACTACAGAAGCTCAATTTTTATATGCTGGTGTTATCTAATGAACAGACTCTTTGCTAGTTGCTCCTTTTAAATTTCTGATTTTGTTTTTATTCAGGATCATGAATTTATCGTGTTTTTTCAG
Seq C2 exon
TCTCTAGCCTTTCTTTGGCATCGCTGAACACGGGTGATAACGAGAGTGTACATTCAGGCAAGAGGACGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118200-CAMSAP1L1:NM_203459:13
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.939 A=NA C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCGTAAAACTGAGGAAGAACGT
R:
CTTGGCGTCCTCTTGCCTGAA
Band lengths:
294-1615
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