HsaINT1007653 @ hg38
Intron Retention
Gene
ENSG00000106069 | CHN2
Description
chimerin 2 [Source:HGNC Symbol;Acc:HGNC:1944]
Coordinates
chr7:29499867-29504821:+
Coord C1 exon
chr7:29499867-29500040
Coord A exon
chr7:29500041-29504743
Coord C2 exon
chr7:29504744-29504821
Length
4703 bp
Sequences
Splice sites
5' ss Seq
GAGGTTTGG
5' ss Score
3.53
3' ss Seq
TCTCTCTCTCTCTCTAACAGGAT
3' ss Score
13.46
Exon sequences
Seq C1 exon
ACTGTGGATTGAACGTACACAAACAGTGTTCCAAGCACGTTCCCAATGACTGCCAACCTGATCTCAAGAGGATCAAGAAAGTGTACTGTTGTGACCTCACAACACTTGTGAAGGCTCACAACACTCAGAGACCCATGGTGGTAGACATATGCATTCGGGAAATTGAAGCAAGAG
Seq A exon
GTTTGGAAAATACTTCCTATTATAGTAGTATAGTGATTTTATTTTTATTGTTTGTTTTTACTGTTGTCAAGGAAACAGAGTTGCTCTACTACTCTTGTTGGGAAAATGACCTACGCATGTGTGCGCACACACACACTCTCTCTCTCTCACAGGTAGACTCAATCCAACCAGCTATATCAATTTCCATTGTATATATAAACCATGCATATATGCATTCAAAAAATGTTTACTGAACATTTATTATATGGTAGGCATTGAGGTAATAAAGGTCACCATTCTCACCTTCAAGAAATTCATACTTCAGCTGGGTGCAGTGGCTAACGCCTGTAATCCCAACACTTTTTGGAAGCTGAGGCCAGACAATCACCTGAGCCCAGGAGTTCAAGACCAGCATGGGCAACATAGTGAGACCCCATCCTACAAAATTCTTTTAAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAGTTCCAGCTACTCGAGAGGCTGAGGCATGGAAGAAATTCATACTTTAGAGTGGGCAATCAGGGGAGCAAATAAATAAACATTGTGGATGGCCGTGTTCAGGGTACCATGGAGTCACAAAGCAAAATGTTTTAATCCTATTTAAGGACGGTGAGAAGGGTTATGGCAGAGGTGAGGCTTGAATTGGAGCTTTGAAAAAAAAGGTGCTTCTGTTAAATAAGAAATTGTTGAGTAACACATACATCTCCTACCACATAAAAATGTGCTCCTAATATTCATCGTTTATTTCGAAGAGGAGAGTTCAAAGATTTAAAAGATCTATGCAATGAAAAATAAAGGAAACAAGGAAGATAGAAACATTCCAAAAAATGTTCTTTATGTTGTACATGAGTCACTTTTCCTTTATTTGTGCTTTCTTTGGCCACTGTTCAGTATCAAAATGTTCACTGAAGTTGCCGGATATAATTTGGGTGATTTGGCCATGTATAGAGCCTTTCTATAAGGCTTAAACCACTTTTGCCATGTATCATATTCTGTTATACTGGCTATCCATTATTGTGTCCTAATTGGCTTAATATATTTTATACATATATATTCATTGGTCAACTACCCCATTTTTCCAAAGCACAACTAAAGAGGATGTCATAGCTTATTATCCCAACCCTTTTAGAGAGAGGAAATTATTCCCTTTTCTATGGAGGGGGAAAACCATAGCTATCCTGTTCCCTGAGAACTTGCTAATTTAATCCCAGAGTGTAAGAAATGCCTTCTATCTTTTCACCACTGTGGCTGACAGAGCTTAATGAGTGCTTTGGGATCTGGTGAACATATTAATCCAGTGGCTAAACTGGGTAAGAGGAAAGGAGGGATTCCCTGCCTCTGGATGAGTGGTTGGGACAAGTGACCCTGGGCCCTGCAGTTTGGGGTCAGATTATCAGCCTCTCCAGAGCCTGCAGTCAGGGCTTTTCTGAAGAAGCTGGGGTCCTCCCATTGTGATCCTTACCAAAGACAACTGATAATTCAGGCATGATAACTACTGACATGTCTAACATTTAAGAATAGGGGGCACTGCACTAAGTTTGCCTAGTACAAGAGCGAGATAGAGTAGCACAAATTAGGAATTGATGCCAAAAGAGTCACAGCACAGGGATTAGAGCCCCAGACAGGTATTAGGGGCCTAAGCATGCAAGCAGAACCAGAGAATGCACCGGGAGAAATTTGTATGACACCCGCATTCCCAGCTGTGGGGCCACCACTACCAACACTTTTCCCTGTCTTCCATCCATAAAAAATCCTTATTGTTCTCCAAATGTTCTTTTATGTTCATTTGTCTCTGCGTGATGTGGCAGAGTGAAAAGATCAAGGATTTGAAGTTAAATTATCAGCCCTGTCTCTTACTGGCTGTAGTATGACCTTGGGCAAGTTGCTTACTACATTTGCATATCTGTTTCTTCATCTATAATATGAATGGAATCAACTGTACCTCATAAGGTGGTTGGTGAGGATTAAAGTGACTTGATACATAAATGGACCGAGTACAATGTCCAATCTACTGAACTCAATCTATGTTAATTTTGCCTTTTCTTGGAATGACCCACACCCATACCTCCACCTCCAAATCTGTCTAACTATATTATGTAGCCTGTACATCTCAGTGCTGTCACAGAGACCCTGAGTAACAGTGCCTTTGACAAGATAGAAATCTATTTCTTTGCCCAGTAATAGTCCAGGTACCCAGGAGCAGTCCAGGAATAGTCTGTTCCACCGTGGCAGGAACCCAGGCACTGCAGCTTGTTGCTCTGTCCTGCTTGAGTGCTATCCTGCGTGCACAATCACAGTTGGCCACCACCATCTCATCTGCATTTCACTTAACAGGAAGTGGAAAAGAGCATGCTCCATTCCTTCAAGGCCACAGAAGCTGTAAATGTCACTTCTGCTCTCACATGGGCCAGAGTTTAATGGCCACTGCAATGGATATTGTTCTAAAAATCAAAGGTTCCATTACAACAGAAGAATGGGAGAACAAATATTGGAAGGATAGCTGGCAACTTCTGCTACTCTGGCAAACTCTAACCATCCTTTATCATTTCCTTCAAAGATTAGCTTCTTAAAAAAGCATCTCGATGTAATACAGGGTGACGCTTTGCTCAGTGAAGCATGGGCTAAAGTCAGGAAAATTACCCCCATTTAATTATAATCCAAACCATACAACTTGGCATATTATATAAGGCATAGATTTTTTTTTTTAAAAGTGACGGGATACATGTGCAGAATGTGGAGGTTTGTTAAATAGGTATACATGTGCCATGGTGATTTGCTGCACCTATCAACCTGTCATCTAAGTCTTAGGCCCTGTATGCATTAGGTATTTGTCCTAATGCTCTCCTTCCCCTTGACCCCCACCCTCCAACAGGCCCCGGTGTGTGGTGGTCCCCTCCCTGTGTCCATGTGTTCTCACTGTTCAACTCCCACTTATGAGTGAGAACAAAAGCATGGATTTTTCTACGTTCCTTGAAAACCTGGATTTCTTTGAAAGTGACTCAGTGAATCTTATGGCTGAATGTTTGTGTCCCCTGCCCCACCAAATTTACATATTGAAGCCCTAATCTCCAGTGTGATTGTCTTTGGAGACGGAGGTCTCCAAAGAAATAATTAAGGCTAAATGAGGTCCTGAGGGAGGGACCCTAAACATTATGACTAATATCCTTATGAGAAGAGACACCAAAGAGCAAGCTCGCTCTCTCACTCTCCATGCACATATACCAAGGAAAGGACGTGTGAGAGAAGGTGGCCATCTATGAGCCAGAAAGAGAGCCTCACCAGAGGCCAGAACTTTGATTCATCCATCAACAGGCAGGGTTCATTGTTCACTGCTAGGGGCTCCCATAATCCACTGGGTCTGTGCCTCTGTGGCAGTGCATGTTCCAACTGGAATGAGATGTGCTCATATGCACCAACATCTTAGAACAGGATGACCCACAGGTTTCGTCTTGTGTGGCAACTCCAGTTGATCAGTAGTGGTCACCTGAACAATTGGAACTGAGATGAATTCTGAGGCTAAATAGGGCTCAGTGGGAAAAAGGGCTGAGATCAACTAAGAGTATCTGTCATGGTCACAGGAGGGATGAGGGGAAGTATTCGTGATTTACGCCACGTATTTGTTGTCTCTGATGCATACCTAATGAAGACCCTTATATATGGCAGATAATACATACTCCATAAATGTTTTCCAAATGAAAAAACAGGAGAATATGTGAGTTATCAAGAGTTTGGCAGAATATATGGCGGCAGCAGCAGAGGCTATTTGTTTGCTCATTTTTACTGTAGCTATAGTTTTGATAGCAGCTAGTTTGTGACATACAAAGTCTGAAACCCAGTCCTTTATCCCTGCTCATACTTTTGGGAACTGACTCGTTTTTAGGACATATCTTAACAAATCAATAAGCTCCAGGGACAGAAACCATGTCTTTTTTTCTTAGCCTAAATTTGCAGTGATCCAATTTCCAGAAGCAATAACCAAAACTTTATTTTCCTGCATCTGTTTGTATAATCAGTTGTCTAAAAGTATAACAAGTAACCGTTTTTAATTAAACAGTTAACATAGTCTTATTTACAAGTAAACATGAAAGGCTGTAATAGTCTAATTTTTTCCAATACAATCAGAGTAATACAGATTAGATACCCACATACATACATGTGTGTATCTAGTACAGTGCTACATACAATATAGCACATGGATTAAGATGATGCTAGGTACCCCATTTGCGCTGCTGTGATTATTACACATCTTATGCCTGTATCAAAATATCTCATATACCCCATAAATATATACACCTACTGTGTACCCACAAAAATTAATAAAGATGATGCTAGGAAGAAAGCCAGGTTGCTTCCTACGATGACGAAATTCATGTCCATCAAGCTCATGAACACAGGAAAGGAAGTAAGGGAACGGTCCATGGGAATCTTAAATATCAGTTCTCTTTGCAAAGCAGGGAAGGATGAAGACTGGATTTCCATTGAGATCTCCACTGCTACATGGGCAAATGAGAACAGACTTGCCTGGGAAATTGAGACAGACAAGTCCAAGTTCTGATGCAACAGTGTGTGATAAATAAAATCACTGTCTATGTTTGCTCATTTTCTGATAGCATGTAGTATAGACGTGAAATTAGTCTTTTTTTTTTTTTTAGATGTTTCAAGAAGCTAAAGTCAGTCTCTCTCTCTCTCTCTAACAG
Seq C2 exon
GATTAAAATCGGAAGGCCTTTACAGAGTCTCTGGGTTCACTGAACACATTGAAGATGTCAAAATGGCATTTGACAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000106069:ENST00000222792:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.008 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0231811=FYVE_2=PD(37.7=72.9),PF0013017=C1_1=PD(37.7=33.9),PF087466=zf-RING-like=PD(50.0=33.9),PF0062022=RhoGAP=PU(21.5=23.7)
A:
NA
C2:
PF0013017=C1_1=PD(0.1=0.0),PF0062022=RhoGAP=FE(17.3=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
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