HsaINT0035546 @ hg38
Intron Retention
Gene
ENSG00000122966 | CIT
Description
citron rho-interacting serine/threonine kinase [Source:HGNC Symbol;Acc:HGNC:1985]
Coordinates
chr12:119710540-119712347:-
Coord C1 exon
chr12:119712178-119712347
Coord A exon
chr12:119710621-119712177
Coord C2 exon
chr12:119710540-119710620
Length
1557 bp
Sequences
Splice sites
5' ss Seq
GCTGTGAGT
5' ss Score
7.39
3' ss Seq
TTTCTTTCACCTATGAAAAGAAA
3' ss Score
2.26
Exon sequences
Seq C1 exon
ATGTCCCATACATACTGAAGATGGAATCTCACCCGCACACCACCTGCTGGCCCGGGAGAACCCTCTACTTGCTAGCTCCCAGCTTCCCTGACAAACAGCGCTGGGTCACCGCCTTAGAATCAGTTGTCGCAGGTGGGAGAGTTTCTAGGGAAAAAGCAGAAGCTGATGCT
Seq A exon
GTGAGTATGAAAGCGGGCCCTGGAGGTTGTCTTTGTAAAGGGGGCTGACTTGGTAACTGGTGTTAACGACGAGAATCCCATTGGCCATTTTGATTCCCCTCAGGCTCTCTCTCTGAGGGCTGATGGCTCTAGACTGTGTCATGGCCAGGAGTCTGGTGGTGATGAAGGCACAAGCACCAAGGTAGCTTGTGTGGCATCATGATCCATTTAGAATGTGGGAATCAGGGATGCGGTGGCTCATGCCTGTGGTCCCAGTGACCCAGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAAACCAGACTGGGCAAGATAGCAAGATCCCATCTCTTAAAAAAAGAGAAAGAAAGAAAGTTAGCCAGGTGTGGTGACATGCACCTGTAGTTCCAGCTAGTAGGGAGGCTGAGGCCGGCGGATTGCCCAGGAGTTTGAGGCTGCAGTGAGCTACGATTGTGCCACTGTACTCCAGCCTGGGCAACAGAGCGAGGCATGGACTGTAAAAGCAAAGGAAAAAGAATGGGGGAATCGGCATCAGTAGCCTACTCTGGTGGCATTGTAGACCTTGGTTGTGGTGATGCAGCAGCAAATGTACTTATAAGGAAATCCTCTCTCCTGTTTACTCAAATGAGTTTGTCTGGTTTGAAGGCTTGAGTTAGAAGCACTTTGGCCACGAAGCAGCACAATAGGCTGCCGGCAGCTGTGTCCCCTCCAGGAAGGCTTTTCATAAGCATCTCAGTTGTTTTTGCAGTATTTGCTCTTCCGTAGGCAGGTTTGGAGTCCTACTTATCCTTAAGCTGTTAGAAACGTAGGTGTGCTGTGATTGGCATCACCCCACCTAAAATGTTCCAGGATACAAACAGTGCTCATTGCTCATTGACGTTTGCTCCAGCGAAGACCAAACAGCTCTTTTCAGACTCTTCACTCCTAATAAACACTTTATGTGTTAGCAATTGGCAGATTCTTAACCACAAGCCTCCTGAAAAGGGCTTTACTCAGTGGTTAGACCTGTTTGGATGACTTGTTGGTCGTTTCACACGTGAGCTTTTACTGAAATCCTTGTTAATATGTGTACAATAGGCCCGCGACTGTGTTTCTTACGAGCTTCTGCCTGCCTGGGTTCAGGTAAAGAGATGCAGAGGCGTGCTGGCTCGCTGCTAACACGGCGCCTTTGCACTTCTGCTGCAGCCTTATGGGGGAAGGAGTCTTTCATGTGTCTTATTAACCCTGCGCAGGTGAAATCTCCTTAGCTTCAGCTTATTTCTTATTACAGAATAGCTTTCCATGTCTACTACCCTCCCTTATTTCTGCATCCCAGCCAAATTATAACTCAGATGCTAATTAACAGCTGCCCCAGAGATACCAATAGCACTCGCATTTTGCATTTGGAGCTCAGATCAAAATACGGGCTGAGCTAAGAGCATATGTGCGTTTCTGAGCATTTCCAGGAATAACTTGGCCTTAACCTTCTCTTGGTTTCTCTGGATGGTTTGGTCATAAACAGATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAG
Seq C2 exon
AAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000122966:ENST00000261833:36
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0016924=PH=PD(35.8=75.4)
A:
NA
C2:
PF0078017=CNH=PU(2.2=22.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTCCCATACATACTGAAGATGGA
R:
GCAGCGTGCAGTTCATGTCTA
Band lengths:
236-1793
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development