Special

HsaINT0027165 @ hg38

Intron Retention

Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin associated protein 1 [Source:HGNC Symbol;Acc:HGNC:19946]
Coordinates
chr9:135808487-135815215:-
Coord C1 exon
chr9:135815097-135815215
Coord A exon
chr9:135811612-135815096
Coord C2 exon
chr9:135808487-135811611
Length
3485 bp
Sequences
Splice sites
5' ss Seq
GAGGCAAGT
5' ss Score
3.32
3' ss Seq
CCTTTTCTCTCTCTGCACAGGAG
3' ss Score
11.34
Exon sequences
Seq C1 exon
GTCCCAAGCTCTTTAAGGAGCCCAGTAGTAAATCAAACAAGCCGATTATTCACAATGCCATATCCCATTGCTGCCTGGCTGGAAAAGTGAACGAACCCCACAAGAATTCCATATTGGAG
Seq A exon
GCAAGTATCATGTTTCAACCTCAGTTTTTATGTGGAATAAAAAGTGTTTATAAATTAAGGGTTCTTTTTAAAAGAAAACACCCCTAATCTTTGATGCATGAGAGTTACTAGGGAGAATGCAGATTTCAAGGAAGAGGCCGTTCCAGGCAGGTGGGAGTGAGGAGTGCCAAGGTCCAGGGGCTGCAGTGAGCCTGTGCTGGAGGAACACCCAGGAGGACGGGGCAGGGTTCAGAGGCTACATCCTCATGTGGTGCCTCTGGGCTGAGGAAAGACATAGTTCTACTCAGTGAGATAGTGGATGCAGGTGTGGGCAGAGGAGAGCCAGGAACCCACCTGCCCTTCCCAGTAGATCAGAGCAGTCAGCAGGGAAGCCAGGGAGGCAGCCTGGAGGTGAATGAGGAACAGGGGCCAGGGCTGGAGCGGTGGGTTGGGGAGGACCGAGGACGGAGGACGGAGTGGTGGGTTGGGGAAGATGGAGTGGGGAGGGAGGGAAGAGGCGCGCACCCGCTGAGCGTGTGGACTCCGGAGCACCCAGTGTGCATGCCCAGGGAGGGGCTTGGAAGCAGGAATCTGAGGGTCCTGCACGGGGTCTAGGCTGGCCCCTGAGGGGCAGGACTGGGATTCCAGGGGAGAGGAGGCAGAGCCACTGGACCCTGCCCCAGATTGAGGCTGGTGTGTGGCCTTAAGTTGCTGGCCTTGGGATACAACGGCTTGTGAATGAGTGAATGAAAATTATGCAACAATCTGTCATCCACCAGAAATTCTGCTTTTTAATAATTAAGACTAACCCCTGGTCCTTAGTTGGTTTAGTTGTAAAAATTAAAGTGACATACGGAATTTCTGACCCACTTTAAAACGGATGTGTTCTTTTCTTGATAGTGAAGATCATCTAGACTAAGAATGGCCCCGACCTAGGCAGGTCTCGTGGCACTGGGGACAGAAGAGGCCATGGTCATGCCCTTCCTGCTTAGATTTCCACACGGAGAGGTGGTTGGCCCCCTGTATCAGTGGCCCCCAGGATCACCCTGCATGCGGAGATGCACTGGAAGGACTCGTGGCCCTCAGTGTGGAGTCGACCCAGGGCTTAGATTTATTCCAGCACTGTGGAGGGAGCCACAGCCACTGGGTGAAGAGGGAGAAGACAGAGGCGGGGCTAGGCCTTGTGCAGCTCCCTCTGCTCTCGTTCTTCCAGCAGTGGATCCACAGCAGCCTGTGGGCCATGGAAAGCCCTTTTGAGACTGGATGCCCTGAGCTCTCCTTGGGGGCTGGTCACAAGGCACACTCCCTGCCCAGTGTGCAGCAGTGTGCCTGACGCCTGGGAGGAAACCAGCGTCAGCGTGCAGACCAGCAGTTCAGGCTCAGGAGGCCCTCCTGTCTTGCCAGTGAGTGACTGGGAGCGAGCTCTGCAGATAGCAAGTTCCCAGGTGCCCACCAAGGGCCGCCCAGCAGGCAGGCCTTTCTAGGACAGCAGCCCTCTCAGCTGTGCCACATAAGCTGTGGGCACCACACGCTTCCTTATCGTGCAGGCAGCAATAAGTAAATAAGATGAACCCCACTCCCCACAGTCCCGCTGTCGCTACAAATTAAATGTTTCTTTCTTTTTGGCATCTAATTCTGTTCATATTTAAACACAGTGAGTAGGGTTGAAATCAGTATTATATAGACAGTTTTGGATTCTTTTAAAAAATACGTATTATTTAAAATAATAAACCCCATTATATGCTGATACATTGCATATTTATGAAAAGTAACTTTTCTAAAGCCAAATAAATAGAAGAGTGGCATTGACATAAGAGGGCTGGCATCTCAGCCGCTCGGGCCCTCCGTCCATTACAACCACACAGCCCAGGGCCTTGGGAAGGTTCTGCCGCACACTTGGGAGAGGCGATGAGGCCTTAGCCTTTCGAGGTCGAGGGCTTGACCCTGAGATTCCTGGGAAGGCCTCAGGATGCCTGGGCCGCATGTGGAGAACTGTGAGGGCAGACCCAGGTGCACTCCCATTCCCAGGCGTGTGGAGGGTTTGTTTTTAAAAGTTACCAAAACACTTGAAGATACGTTTTAAACTTTAAAATACAATCAACAAACGCGGCGACAGGCATCAGCAGTTTGTCATACTTCAGATTCTTCTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCCACCCCTCCAGACTCAAGCGATTCTCTGAGTAGCTCGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATCCTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATTCGCCCACCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAAACAGCTTTATGAGATATCATTCACATACCGTAAAATTCACCCTTTTAAGTTATACCATTCAGTGGTTTTTAGTACATTAATAGAGTAGCACAACCATCACCACCGCCTAATTTCAGAGCATTTTCATCCTCATAAAAAGAAACTCCACGCCCGTGAACAGTCACCCCCCTAAGTCTTCCCGCGCCCAAGCTCTTGGCGGTCGCCAGTCTGTCTCCATGGATTTGCCTGTTCTGGGCATTTACATAACTGGCATCATAATTATATGGCCTTTTGGGTCAGGCTTCTTTCACTTAGCGTGATGCTCTGAGGTTTCTCAGTGTAGTGTGTACCGGACCTCCATTCCTTTTTGTAGCTGGGTAATGCTCCATTGCATGCTCCGACCCCATGCTGTTCATCTCGTCATCTGCTGATGCACACTTGGGTTGATTCTTCTTCAAACATTTTTTATTGATAGGGAACAGATGTGCATGCTTTTGGGGGTACATGTGATATTTTCGTTTCTACTTTTTGCCTGTGAAGGGATAGTGCTGTTATTTATATGCAGTGTTTTGTATGGATGCGTGTTTTCATTTCCCTTGAGTACATATGTGAGAGAGGAATTGCTGGGTCCCACGGTAACTGCCTGATGGTTTGGAGAAGAGCCAAGTTGTTTTTCACAGCAGCTGCTGTGCTCTGTATCCTTCTGGCAGTGAAAGAGCCCCATGGCTCGCCAGCACTCGTTACCGCCCTGCTTCTGGGTTCCAGCCGTCCTTGTGGGCATGACGCGACGTCTCTTTCTGACTGGCATTTCTCTGGTGGCTGATGATGAGCATCTTTTCATATGCTTTTCCATTTAATCGTAAAAGCATTCTTTTCCCCCTTGCTTGCTTAGACTTCTTAAGTAAAGTCTCAATGGCATATAATGCTCCCGTACAGGGGTCTGCTGTAATTGTTTACAACAGGCAGGCCGTAGCTGACGGGTGGGAGAGCTTCCCACGGAGCGGTGCTGGTTGAGCCGCTGTGGGAGCCCAACTCGTGGCAATTGGAGTGGCCCTGAAGTGTTTGTCTCTTCCCCTTTTCTCTCTCTGCACAG
Seq C2 exon
GAGCTGGAGAAGTGTGATGCCAATCACTACATCATACTGTTTCGTGATGCTGGCTGCCAGTTCAGGGCGCTTTACTGCTACTATCCTGATACTGAGGAAATCTACAAACTCACTGGCACGGGGCCAAAGAACATCACCAAGAAAATGATCGACAAACTGTATAAATACAGCTCAGACCGAAAACAGTTTAACTTGATCCCAGCCAAAACCATGTCTGTCAGTGTGGACGCACTCACAATCCACAACCACCTGTGGCAGCCCAAGCGGCCTGCAGTGCCAAAGAAGGCCCAGACTCGTAAATGACCCCGGTGCAGCTGGCGTCCAAAGGGTGACCCAGACTCGTAAATGATGCCCTTGTGGCTGGCATCCAGAGGGTGCCACGGGGTCCTTATTTATTGTTTTCATCTATTTGGGTACGAAGTGTGCAAAGTCACAGACCTTTTGCAAAGAGGTTTCTAGACAGCAGAAGAAAACCCCTCTCTCAGCGCTCATCTCACGCAGAGGATGCCAGGCAGGGTGAGGATGGGGGAGTAGATGCCGCTTTTGCAGTGGCTCGCACTGCTGTGGCCACTGCTGACCACTGAGGCTCCCAGCGGAGGGTGTTCACAGCCAGGTCCCGGGCCACGGAGCTCCCTTACTTGAAGTTCTCCTTCAGCATAGATTAGACGTGATCCACTTTGCTTTCTTGCTTCTCACCTCGCCCCCTTGCACATTGCCTGACACCCTCATATTGGCCAGCTGTAATCTCGTGACTATGGGACTGAGGCTCAATCTTGGCTTGGGGTGTTTGAATGTCTATAGCAAAGGAATTCATAATGGGAAATCTTTTTCATTTGAGAAATTGTATGATATTTATTGGTTGTGTCTACTGCCAACATTTATATCCAATTCTAAGATTTCTGAAAAAAAATTCTTATCCCTTGCTGCTCAGAAAAAGTTTACGGAAAACACCAGTTCACTAAAAGCACCGAAATCTGCAAAGCCTGTCTTCCGCTAGAACAACGTCTACAAATGTGAAGATGATGACTTCTGGCACGCGGTCATGAGGGTGGGGAATGGCACTAGGAGCTGATGTTTGCCTCATTTAAAGTAGGCAAGCCGAGCCAACTGCAGCCATCATTCATTAAGTTTTGGGTAGTGCTCTAATGGTTTGTTCACTTTAATAAAGACAGATTTTGGTAAAGTAGAATATTTTTCATTCTGAGCATGTTTGTCCCAAAAGGTGATGCACTTAAGCTGACAGTCCCTTCAGTGGTTTTGTTAGGTCACGGCTTGTCCTGTCTGGATTCTGCATCTGGAAGCGCTGCATGCTCTCAGAGGAGCGTGCCGTTTCCCCTGTAGATGGATACTTTTGTTTTGTTGCCTATTTAAAAACAATTAAGTGGTTATTTGCAGTTATTTCAGAACTCCAAGTAAGTGGATGGCTTTGGGTTCTTTCTGCCTTGGTCCCAATGGTGTTGATGCTTCTGTGGAGCGCGGACATTCCCAGGAGCAGGTGCGTGCCAGCCATGGCTGCCAGACACTGCTGCAACTGACCAGCTGCCGGAAGATTCTGGAGCCACTAACATTAGTTTTGCACATATTTTCTTGGGAGTGTTACTTGAATCTATCTCAAACTGCAGAAAAAATCAAAAGATCAATAATTGGGAGAAAAAGAGACAAATTTAACTGTTACATAATTTTAGATAGACAAAAAACATGAGTGAGTCGTGTACATAAGGAGGGAACATGGTACAGAAGGCTAGAAGGAATTATAGGTCTTATTCCCCTTTCCTCAGTCCTTTGAAGAGAAGTACAGTCTCTTGCGATTTTGTATATATCGTGTTCGACACAGCCGCTCTCTGTCCTGTAAATAGGGAACTAAAGGCTGTATGATTTCTCAAGTGCTGAGTTACACAGTCCTGAGTGAGCTTTCTGTTACCATACTTTCACACGTGGGCTTTATTTCTCACTGTATGTTTGATATGATATTACTGTATTTATTTTAAGAAAGCACTAAGATGTAATAAAGTGATGAACTAATTTGCTTTACATTGAATCGTATGTGTGAGGTTGCTGTGGCTCATTTCGCTGACCAGGCGACACCAACTCCTTGCTTTATAGGAGTTTCACATTGTTCTTTACCATGGCCCTATCGAAGTCAGTGGAATTGGATTCTTTTTAATGAAGAGCTAGAAAATATCTGGCATAGAGCTGGAAAATTGCATTCCCATGGGACGTCTGAATCAATTCTGGATTTTCTCCATGGAATGAGTCAGTGTGTGGAACATCCTGAAACTTGTCCTTAAGCGTGTAGTTTTCACTGTTCGTTGCGAGTAAGCACTAATGTGGCATGGACATTCCTGATGTCCCAAGTCCCCAGGCCAGTGTTCGCCTAATGATTGACAGAAGCGTCCCTGCGTTCTTCATGCTTGGACACAGCAACCCTTTTAATTAGTCTTGAAAAGTTTCAGACACAGGATTAATTTTCGTGGTGGTGCTTTTGGGCCTTTCTGGCTTGGGTGGTGGTAAAGTCATGATTTTGCAGTTGATAACACTGACTTATAACTCTGTTTATCAATGTCTCCTATATTCAAAGCCCCTGCAGTGGTATTTGTGTCTCGTTGCAAATTTCTTTCAGCGGAAAGCTTGCACAACTTTCGTTGTGTCTCAGAATTCTAACCTTGTTATTTAAGACAAGCTGCTCTACCCATTTAGGATATAACTTTGTAAAGAAAGTGTAAACCAAATGATTCAATGTATGATGAAGTTTATGTGTAAATCCTTGGTAATGCTAGAATTCTGGGAGCCCAGAAGGGTTGAAAGAGAAATGAAACTTGCGTGAGTCCCATTATTTTACGCATGTATGTGCAGATACGTTCTACCCACACGTGTGCGTGCACATGGCTGTGTGCGTGCACCAAAGATGGACTGCTTTCCATGTGTCCTTTTGACTTTCTGCACGTGTCACTGCGGTGCAGTCTCTTAGCAGACTTCAGGCCCAAACTGTATTCTTCACTCAGGCAAAATTGAAAAGTGGAATAATTCTAAATTACTTCTAGGTTATACTTTTACCTCCCTGAAATTGTAGTTGTCACTTGGAGGGCAAAATATTTATTGAAATAAAATTTTCTGTTAAAAATTCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130559:ENST00000389532:16
Average complexity
IR
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.125 A=NA C2=0.100
Domain overlap (PFAM):

C1:
PF086836=CAMSAP_CKK=FE(30.0=100)
A:
NA
C2:
PF086836=CAMSAP_CKK=PD(67.7=87.1)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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

  • Autistic and control brains
  • Pre-implantation embryo development