AP2S1 adaptor-related protein complex 2, sigma 1 subunit

Ensembl gene ID
ENSG00000042753
Ensembl transcript ID
ENST00000263270 (canonical)
GeneCards
AP2S1
OMIM
602242
SFARI Gene
AP2S1

Gene Constraint

CategoryExp. SNVsObs. SNVsConstraint metrics
Synonymous39.539Z = 0.06
o/e = 0.99 (0.76 - 1.29)
01
Missense92.415Z = 2.86
o/e = 0.16 (0.11 - 0.25)
01
LoF9.41pLI = 0.79
o/e = 0.11 (0.04 - 0.5)
01
Include:
ClinVar pathogenic and likely pathogenic variants (0)
10
SFARI Variants (374)

† denotes a consequence that is for a non-canonical transcript

Cohort Key:  SPARK  SPARK      SSC  SSC

Cohort
SPARKSSC
c.*70G>A
3' UTR
16
57
23676
2.41e-3
SSC
c.*69C>T
3' UTR
1
2
18418
1.09e-4
SSC
c.*55C>G
3' UTR
0
2
18418
1.09e-4
SPARK
c.*50C>T
3' UTR
1
4
140974
2.84e-5
SSC
c.*45C>G
3' UTR
0
1
18418
5.43e-5
SSC
c.*42C>T
3' UTR
1
2
18418
1.09e-4
SSC
c.*42C>G
3' UTR
0
2
18418
1.09e-4
SPARK
c.*41T>G
3' UTR
1
2
140974
1.42e-5
SPARKSSC
c.*27_*32dup
3' UTR
3
8
159390
5.02e-5
SPARK
c.*33T>C
3' UTR
0
1
140972
7.09e-6
SPARK
c.*27G>A
3' UTR
9
19
140970
1.35e-4
SPARK
c.*26C>T
3' UTR
2
5
140972
3.55e-5
SPARK
c.*26C>A
3' UTR
2
3
140972
2.13e-5
SPARK
c.*21G>A
3' UTR
2
3
140974
2.13e-5
SPARKSSC
c.*17C>T
3' UTR
3
7
164650
4.25e-5
SPARK
c.*17C>A
3' UTR
0
1
140974
7.09e-6
SPARK
c.*13C>G
3' UTR
5
7
140974
4.97e-5
SPARK
c.*12C>A
3' UTR
5
7
140974
4.97e-5
SPARK
c.*7G>C
3' UTR
1
1
140974
7.09e-6
SPARK
p.Gln155Ter
stop gained
1
2
140974
1.42e-5
SPARK
p.Leu152Leu
synonymous
1
1
140974
7.09e-6
SPARK
p.Thr145Thr
synonymous
2
3
140974
2.13e-5
SPARK
p.Thr145Met
missense
1
1
140974
7.09e-6
SPARK
p.Gly137Gly
synonymous
2
3
140974
2.13e-5
SPARK
p.Glu132Asp
missense
1
2
140974
1.42e-5
SPARK
p.Asp131Asp
synonymous
2
3
140974
2.13e-5
SPARK
p.Val130Met
missense
1
1
140974
7.09e-6
SPARK
p.Val129Val
synonymous
1
1
140974
7.09e-6
SPARK
p.Val129Ile
missense
1
3
140974
2.13e-5
SPARKSSC
p.Thr128Thr
synonymous
2
3
159392
1.88e-5