Special

HsaINT0073579 @ hg38

Intron Retention

Gene
Description
gametocyte specific factor 1 [Source:HGNC Symbol;Acc:HGNC:26565]
Coordinates
chr12:54463171-54465167:-
Coord C1 exon
chr12:54465067-54465167
Coord A exon
chr12:54463298-54465066
Coord C2 exon
chr12:54463171-54463297
Length
1769 bp
Sequences
Splice sites
5' ss Seq
AAGGTAGGG
5' ss Score
8.76
3' ss Seq
CCTTAATTTTGGTTCCACAGAAT
3' ss Score
7.99
Exon sequences
Seq C1 exon
CCGACTCCCTGGACCCTGAGAAGCTATTGCAATGCCCCTATGACAAAAACCATCAAATCAGGGCTTGCAGGTTTCCTTATCATCTTATCAAGTGCAGAAAG
Seq A exon
GTAGGGTCATAATTTGCCCTCTAACACCCTCCTGAGTTCTTTTAAAAGGCCATATTTTATAAATATCAAATAATTTTATCATGTTTTAATTGATTGCCAGAATTGTTTTGGGAATCTACCTCTCTTAAATACCAACATTTATAGAAAGGCATTTGTTCATTCCTTAGGATAAATTTTTTCTTGTTTTGGTTTTCTTCCCATTAACTAGTGACAAAGAACCCTTTATAAACAGCATCTCTAGAGTCTTCTCACCCTTTGTAAAACAGACTAATTTTGGCTAACAATGAGAAATCCTGCCTATCTTCTAAATTTGATGTATTCATGAGCCTAACAATGATTGAGTGCTATAACTCACTTTTTCTGATTATTTTGTTTAGAAATTTTAGAGCTTGAACAGCTAGAAGTTAGCCCAAGAAAAATTATTCCTAAAAATAACTGTATCTCCAAGTTTCAACAGTAAACATCTTTAAAAAAATAATAAATAACGATTTTTTTTCTGGTCACTCTTGTATAGACTTAGCTGATATAAACTACTTTCATGCTACCTTAAATGAGACATTTTGACAATGTTGTTAGAATTCTGATACAGAAGCCAAAATTCTGCTAGAATTTATGCTTGGGAAACAATTGAGGTATTTAATCCAAACTGCATACAATTCAGCTTTAACATCCTTTAAAAAGTGCTTGTAATCCTGGAAACATCATGTATCTTTGTTATTTCTCCAGCTCCTTTTAATCTCGAGAGCAAGGATCCCTTAACATTAAACCTGGACAGTATGGATCAGCAGATACCACTACAACATTGTCCCCTCTAGGCTCTCAAACATTTCCCAAATGGAGTCAAGTGGTAAAAAAGACACTATCATAATTCCCTTCTTCTAATGTTCTTAATCTTTGGCCACAAAACCTTTGTATTGAATGCCTGATACCACTTATGAAAATGACGGCGATGCCTGCAAGTTTCTCACACCTATATATTTTTCCAGACTTCTCCCTACTTCATATTATTTTTACTTTTCCGAGTTTCATTTATGACATATCTTTTTTTTCCTAATAAATTTCTTAATTGCTGGTATATTTGCCATAGGATATAGGTGATACTAAACCCTTTGTTTTGTTTTAAAATAAGGAACTTGGTCAGCAAAGTAGACTCTATCATTTGGGTTTTTCCTTAGTGAAATAGCTGAAATGAAGGTCAAATTGTTCAGAGATTCATTTCAGGCATCATTACGTTAAGTAAGCATCACTGTGTTAATCTGAAAAATTATTGGTTTGCCTCTTCTGTGGCTCCCTTCCAACAGCTATTTTCCAGCACTATTGTATTGCAATAGCAGGGACACTACTGCAATGCAGACTAAGAGTGTATTTTAGTGTTGCTATTCATCTTGAATATCAGCTTTCAAAGACATCCAGAGAGCTCTCTCATTACGGGCTGTGCTGCCTGAATCATGTGACTCTGAGAAATAAATGGGGGAAAGATGTCGTTCCAATACCCAATCCTAAATTCATTGTTTAGCTAACAATATCTGTGTTGTCAGTCTCTACAATCATAACAAAAAGACTTATGTTTTGATGATTTTGAAGTAATTGTCTATAAAAACAATAAATAATTCCCTCTTAGTTTTTTACTCTGAGTTTACTTGTTATAGTTAAGCCAGAAGTTTATTGAGGAATTTTAGGGGAGGCATTTGTAGAATAAGGCTTAGCTACTCCCTGTTGACTTTAGTAGATCCAGAGAACTGACAGATCCCTTAATTTTGGTTCCACAG
Seq C2 exon
AATCATCCTGATGTTGCAAGCAAATTGGCTACTTGTCCCTTCAATGCTCGCCACCAGGTTCCTCGAGCTGAAATTAGTCATCATATCTCAAGCTGTGATGACAGAAGTTGTATTGAGCAAGATGTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000170627:ENST00000305879:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.024 A=NA C2=0.012
Domain overlap (PFAM):

C1:
PF052537=zf-U11-48K=WD(100=79.4)
A:
NA
C2:
PF052537=zf-U11-48K=WD(100=62.8)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACTCCCTGGACCCTGAGAAG
R:
ACATCTTGCTCAATACAACTTCTGT
Band lengths:
224-1993
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