HsaINT0035035 @ hg38
Intron Retention
Gene
ENSG00000128656 | CHN1
Description
chimerin 1 [Source:HGNC Symbol;Acc:HGNC:1943]
Coordinates
chr2:174799363-174801812:-
Coord C1 exon
chr2:174801707-174801812
Coord A exon
chr2:174800288-174801706
Coord C2 exon
chr2:174799363-174800287
Length
1419 bp
Sequences
Splice sites
5' ss Seq
GAGGCAAGC
5' ss Score
2.09
3' ss Seq
CCTGTACTTGCATTTTTCAGAGT
3' ss Score
8.34
Exon sequences
Seq C1 exon
AAATTATGGATCCGGATGAGCAATTGGAAACCCTTCATGAAGCACTGAAACTACTGCCACCTGCTCACTGCGAAACCCTCCGGTACCTCATGGCACATCTAAAGAG
Seq A exon
GCAAGCTATAGACTTTGAGTCTTACACTTGTATTGCATCCAAATTTTAAGGACAAAATGAAATGAAGGGTGAAAGAAAGGACAAATAATCTATTGAATGAATAAATAAATGCATAGCTATATTGTCTTTTGTGAAATTGCACTAGTTGAGAAGGAATGCTAAAAATATTTTACACTATAATACTGAGTGCAGACTTGATTGTGTTATAAATGGATTTGCAGTTCCAGTATATGTTTTCAGATATGCTAGAAATACCAATATTCTGCCAAGGACATGCACTAATTTTTGTGGAAAGATAGAGTTGTGGCTGTAAAGACACTTGCATAATAAAGCAAGAAGAAAGCAACTTGCAACTTGCAACTTGCAAGGCAGCTCACTTTTCCTATCTTCTTGCTCCAAAAAAAGCACTTCAAACTTGGTGACAGGATTTTCGATTATTGAATTATTGTTGCCAACACTGCAAACTGATGTAAAAAGTGGTGGAGTAAAGAAGTAAGGGATAAAGGGAGGAATGGAAAACGAAGTATTTCAGTTAATTGTGGTTTGATGTTTTCAGGCGATAGTCATGCAGCTTTACTCCCTACTTGGTCACCCTCGATCTCTATCAGTTGAAGCAAAGATTTCCAAATTACACGACCAAGTTTTAGTGGTTTTAGGTTTTCAAAGTATAAAACCAATCAGAAACAAAAATACGTATGTGGCCAAAGGCATGAGTTATATAAAAATGATATTTTAGTCACTCATGAATGTTTACATTTTTCCTCTTTAAGAGCACCATGAGTTAAAACCTTTGTTTAATGTGCTTACAACTTCGCTTATAAACTCAGGATTGCTTCCTGTTGGGATGTATTTAAGTGTTCCACACTAAAACAGAGGACTAACTCTCAAATCATATTTTCTGTGTTACTGTGCAGTGGTAAAAAGCATATAAACACATACCCTCCCTGACGATGGTGCCTACCCATTGCTTATTACTGTCGCTGCTGTTCTCTTCCTAGACACTTACTCAACTGTCTACTTGCAAAACTACTCCATAGCAAAGACAGCCAGAGTGAAGGGAGGGTGGGTGGATTAAATCAAGGTGACCCAGTTCCTTCTCAGCTATTTGCAAATGTAGGTTTAGAACTATAGGCTGTAGGTGGGCTGTGGCAGGAGGATCCATAGATAGAACTGAATCCATACAGTGCAGCACATTAACTCAGGCTTGAGCCTCAGTGATTACCACAAGTTTAAATTATCTCTTGACATAATTTACTTTAAGGAAAGTCAGTACTTTGAAATTACAGAGAAATAACCTAGTGGAAGAGTTGATAAGCGGACGCAAACTTTTATTGTGAATCTTGTTGTTTTAGTGTTCAAGCACAATGAAGAACATATGGCTTACACAAAGTCATTTATTCCTGTACTTGCATTTTTCAG
Seq C2 exon
AGTGACCCTCCACGAAAAGGAGAATCTTATGAATGCAGAGAACCTTGGAATCGTCTTTGGACCCACCCTTATGAGATCTCCAGAACTAGACGCCATGGCTGCATTGAATGATATACGGTATCAGAGACTGGTGGTGGAGCTGCTTATCAAAAACGAAGACATTTTATTTTAAATTTTTAATTTGAGGGGAAAAGAAATGTTTTACAGATGAAGGAATGTTTTATAGTAATTTAATTTGCTCCTGTAGCTGCATTATTTCTTGATTAGAGGTTTGGGCATATAACCAGATTAAAGTGAAGGAACTTTCTGTTGTTTTTGTAGCACCGCTCAGCTGTCTTGTAAAACAGTGAACACACGCTTTCTGGTTCTAGTAATCCTGGGTGTTTATCACGTTCAGAGAAACTCAAGCTATTGCATGATTAGCCCCCTATCTGGCAAGGAAACCCCATACAGAAGAAACAACAAACCTGCGCCTGCACCGCCTCTGCGTCCTGGGTAGTCTGTGCTTGTAATCCAGCATGTTTCACAGAGTAAGCCTGTTGTGACTTTGCTTTTGGGGTCTATGTCATTGGTTTCTGATGCTTGTACAAACACGCACACACAAATGGATAAAACAGCACCTCTGGCTGTTACATTACCATAAACCATATCACATGCCTACATTTTACAAATGATTTCTGGTTTCTCTTAGTTCTTCTCTAACATAGTACTTTCTTTCCAGCAAAAGCAAAATGTGTTTTCAGATTTGTTACTTTAATAAAGGTTATCCATACCAATAAAAAGTGTACAACACAGCATTTTCTGTTAAATTATTATTGGTTTTCAGTTGTAATTTGGTATTTTTTCTGGCATGCGTTTATTAATTTATTAAATTGGCTTTTAGAAATAAAAAATATTGATAGCTTACTTTTTTCTCATAAGAATA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000128656:ENST00000409900:12
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0062022=RhoGAP=PD(28.1=94.4)
A:
NA
C2:
PF0062022=RhoGAP=PD(20.8=55.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTCCGGTACCTCATGGCA
R:
AGCGGTGCTACAAAAACAACA
Band lengths:
358-1777
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