Special

HsaINT0027180 @ hg19

Intron Retention

Gene
ENSG00000118200 | CAMSAP1L1
Description
calmodulin regulated spectrin-associated protein family, member 2 [Source:HGNC Symbol;Acc:29188]
Coordinates
chr1:200825138-200826552:+
Coord C1 exon
chr1:200825138-200825253
Coord A exon
chr1:200825254-200826433
Coord C2 exon
chr1:200826434-200826552
Length
1180 bp
Sequences
Splice sites
5' ss Seq
CAGGTTAGT
5' ss Score
8.02
3' ss Seq
TTGTTAAATCCCTACCATAGGAC
3' ss Score
7.39
Exon sequences
Seq C1 exon
ATCAGAGTCTGTAGAAGGCTTCTTATCTCCAAGTCGTTGTGGCAGTCGAAATGGAGAAAAAGACTGGGAGAATGCATCAACAACTTCTTCAGTGGCTTCTGGAACAGAATATACAG
Seq A exon
GTTAGTGTCTATACATTTTTAGAGAAACATTTGAATTTAACACACTCATAAATGGAGGGTGTACTAAAGAAAATTTTATTGGCTCACCTTTGGGTCTTAAACATAGGCAACTAATAAACAGTGAATGCAGGTGGTCACTTTCAGGTAGTTCAGTAAGTTTCTAAACAAAATTAGTGATGCTACTTATATCTCATCCCTCTAACCAATGCTGGCCATTTCTGTGTGTAGTTTGGGTCCGAAGAAGTTTTAGAGAAGTTCTACATAGTTCCTCAGTACTGAGTAAAGGCTAGAATCCACCAAGTCCTCTCCCTAATACTGGGATTCCAGGTATCCAGAATTGTGCACCTTTAGCAAGTATTAAGAGGCTCTAAAAGATAAGAATGCATTGAATCTAGGAAGGTATCTAGCCTCACATATCGCCACCAAGTCCTCTTCTAGCTTCTAGGTAGGCATGATTGGAATAAAAGCAATGAAGAATAGAATGTGGGTTAAGGACACTTCTAAATAAATGAAGCAGGAGAGAAATCAGAAGAAATGTCAGCAGCACGTTGAGAGGTAAGATAGGAAGGCATGGGAGAACATGTATGGGGAAGAGCAGAGGGAAAAGGAGATGCCTCCATCTATCCATGATAGAGTGGAAGTGGAAACCCTAGAAAGGCCTAAGGAGGTTAGAACTTGCTAGAGACCCACTCTGTGGCTTTTAATACTACCTCCTACCGCCAGTCTGACAGCCTTTAAGGCCTGGGATTTGACAGTATTTCCATGTTACTCACTCTGCTTCTCTATGTTAGTTCAGTTGAACAATCTGAAAAAGAAAGCTTTTTTTTGCCTTTTGAAAAGACTTAAATTACTCATGGACCCATTCTACTCTAAGCTAACCAGTAACCGTATAGATTTAAGAAAGAAGGTTAAATAGGCAGTATGACAGTTATAGCAATATTTTATTTTTAGTACTGCTCTCACAGGGTACTCCAAAAGGCCATAGGAACATCCTCCATATCTCTGGGTGGATAAAACAATGTTTTGGTTGGATTGCAGCCAGTAAGAGGCCTTTAAGCACAGAATTTGGTCTTCTATTACAATATTTCAGCAGTGTAGGAACAATTACATCATTTTAAAATAGTAGTATTTCTGACTTAGGAATGTTATTTTTATTATTGTTGTTAAATCCCTACCATAG
Seq C2 exon
GACCAAAGCTCTACAAAGAACCCAGTGCAAAATCCAATAAGCACATAATACAAAATGCTTTAGCTCATTGCTGTTTGGCTGGAAAAGTAAATGAAGGTCAGAAGAAAAAAATACTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118200-CAMSAP1L1:NM_203459:15
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.950 A=NA C2=0.400
Domain overlap (PFAM):

C1:
PF086836=CAMSAP_CKK=PU(0.8=2.5)
A:
NA
C2:
PF086836=CAMSAP_CKK=FE(30.0=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATCAGAGTCTGTAGAAGGCTTCT
R:
TTCTTCTGACCTTCATTTACTTTTCC
Band lengths:
222-1402
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