HsaINT1013892 @ hg38
Intron Retention
Gene
ENSG00000172969 | FRG2C
Description
FSHD region gene 2 family member C [Source:HGNC Symbol;Acc:HGNC:33626]
Coordinates
chr3:75665126-75667220:+
Coord C1 exon
chr3:75665126-75665203
Coord A exon
chr3:75665204-75665526
Coord C2 exon
chr3:75665527-75667220
Length
323 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGAA
5' ss Score
6.68
3' ss Seq
CTCACATGCTTTCTTTGCAGGGA
3' ss Score
10.81
Exon sequences
Seq C1 exon
AACCAGAGTCCAGCTCATATCAGGAAAACTGCAGGAAAAGAAAAATCAGTTCCAAGGATATCTGCCAAGACAGAGCAG
Seq A exon
GTAGAATCTTGGTGTTTGTTGTTGTTGGTGGTGGTGGTGGTTTTTTTGTTTTTGGTTTGCCCCAAAAGGCAAATAATCAGGAAACTTTTATACGAGGCTTGAGCGGAAAGGGAATTACTTATTGACAAGTAAATTTTTGAGATCCTAGCACTCTGAGAATATTTGGGGACTCACAAGTGGTTCAGCCTCACTTCATTCCAGTCCTGAGATGGTCAGGAAGGAGTGGGAGAGACAAATGGGGTTCACCTGGGTGCACAGGGGGTTCTGGAAATGAGGGTCTGTGGGGACTGCTCTGGTGAGTCTCTCACATGCTTTCTTTGCAG
Seq C2 exon
GGAACTGTCCAGAAGAGGAGTGCAACTTGACGTTGAATAAAAAATCAAGATCCTCCACTGCTGTGCACAACAGTGAAATCCAGGAGACCTGTGATGCCCACCATAGGGGAAGTTCCAGGGCTTGCACTGGGCGCAGCAAGCGGCATAGGTCTCGGGCCCTAGAAGTCCAAACACCGTCACTTCGAAAAAGCTTGGTGACCTCTGTGCGAGCTATGTCGGAGGCTGTTTATCAAGACCTAGCCCAGGTGTGGGCACAGCAGATCCATTCTCCACTGACCTGTGAGCAGCTGACACTGCTCACTCGGCTCCGGGGGCCTCTGTGTGCCCAGGTGCAGACCTTGTATTCCATGGCCACTCAGGCAGCTTATGTCTTCCCTGCTGAGAGCTGGCTTGTCCCAGCCACACTGCCTGGTCCTGGGGATTCAGCCCTGGATAGAGAAGCCCATCCCTTCCCTGGGCAGGAGATAACTGAGCCTGTCAGTGGATCAGATGAGGCTAAGCTGGGAGCACCCTGACCCTATTCAGCAGAGATGCAGCTCTGGGAATGAGAACAAGGACCTGCTTCTTCTCAGATTCTTCCAGACGACCAGCAGTGACAATTTTAGATGCACTGTGTTAATAAATGACAGAACCTGAAGAAGTCATAGGAAAGAAACTTGAGCGGTATACTCAGAATGGTGAGCCCTGAATTTTGCAGACCGCTAAGGCTATAGACAAATTTTATATTTCATGTTAGACATTTGATACCTTTTGGATGTCTGATGACAGTCGTGCATTTCTATATAATCAGAAAAATATTAGGTTGCAATCGTGAATTTTCATATTTTAGATTGTAGAAAAGTAAATATAAAATTATATGCTCTTTTTTTTTTTGAGACAGTCTTGCTATGTCACTCAGGCTGGAGTGCAGTGGCACAATCTTAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAACAATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTACCGCCATGCCTGGCTAATGTTTTTTTCTTGTATTGTTAGTAGAGTTTTGTCACGTTGGCCAGGTTGGCCTCGGACTCAAGTGATCCACCAGCCTCCACCTCCCGACGTGGTGGGGTTACAGGCATGAGCCGCTTTACCAAGAAATTGCTTCTCTTTTAATTCGGAAAAGGTTGTAGGCTCTTCCAGCCTGAACCCATGGAGTACTAACATCCACAAACCATTAATAGCACTCCCTGTGGGAAAATGTTTATACATTTTTACAGTTTGCATAGTAAAATTACTATGCAAGCTGTTTACTTTTAATATTTCTACATAAAATTTAAGTCAAGATATATTAAATGGTAAATGATTGTACTTATTTATTCATCTGCCTCATGTTTTATTTCATTTTAAACATCCTGAATTTATATTTTATTGTATTTCATACATTTCAATTGATTGTACTGTATTGCAGGATATGGAGATTTCATCACATACTACAATACAGTGTATTTTGTTATATTTGACGTATATTCTACTTGTATTTTGTACTGAGATCATACAATCTTTCATTATCTAAGTGTATTAATGACTTGTTTGGTTGCTTTATAATTTTCATTTTATGTAATAATGAAATAAACATTAATGTTGTTTGGAATTTTAAATTTCTTTCATATGGAATTTGTATTTAATAAAGATGTGAAAAAGAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172969:ENST00000308062:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.519 A=NA C2=0.509
Domain overlap (PFAM):
C1:
PF153151=FRG2=FE(14.3=100)
A:
NA
C2:
PF153151=FRG2=PD(71.4=75.6)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGAGTCCAGCTCATATCAGGA
R:
GAGAATGGATCTGCTGTGCCC
Band lengths:
346-669
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains