| General information of RDP00404 | |
|---|---|
| Gene Symbol: | UPP2 |
| RefSeq ID: | NM_001135098 |
| Repeat coordinate: | chr2:158104917-158104977 (+) |
| Repeat size: | 12 |
| Repeat region: | intron |
| Repeat unit: | AAGGG |
| Repeat conservation: | PhastCons_score: 0.000; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | - |
| Gene expression and GO annotation: | BioGPS |
| Protein expression: | Human Protein Altas |
| Gene conservation: | Gene Conservation from UCSC Genome Browser |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Autism Spectrum Disorders | NM_001135098 | 0.31 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
158104917
.
AAAGGGAAGGGAAGGG
AAAGGGAAGGG,AAAGGGAAGGGAAGGGAAGGG,AAAGGGAAGGGAAGGGAAGGGAAGGG,AAAGGG,A,AAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG
1128156.12
2
158104920
.
G
T
1038606.52
2
158104931
.
GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGA
G
19253.66
2
158104934
.
AGG
A
12688.36
2
158104936
rs13426920
G
A
525920.16
2
158104938
.
AAGGGAAGGGAAGGGAAGGGAAGG
A,GAGGGAAGGGAAGGGAAGGGAAGG
6772.83
2
158104943
.
A
G
5402.19
2
158104944
.
AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGAGAAGGGAAGGGAAGGGAGGGGAGGGGAGGGGAG
A
5524.91
2
158104947
.
G
A
6049.46
2
158104948
.
A
G
5748.15
2
158104949
.
A
G
6230.61
2
158104951
rs868180676
GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGA
G
6093.38
2
158104953
.
A
G
6459.15
2
158104954
.
A
G
6823.22
2
158104956
.
GGAAGGGAAGGGAAGGGAAGGGAAGA
AGAAGGGAAGGGAAGGGAAGGGAAGA,G
8054.51
2
158104959
.
AGGGAAGGGAAGGGAAGGGAAGAGAAGGGAAGGGAAGGGAG
GGGGAAGGGAAGGGAAGGGAAGAGAAGGGAAGGGAAGGGAG,A
25333.51
2
158104961
.
GGAAGGGAAGGGAAGGGAAGA
GGAAGGGAAGGGAAGGGAAGAGAAGGGAAGGGAAGGGAAGA,GGAAGGGAAGGGAAGAGAAGGGAAGGGAAGGGAAGA,G,AGAAGGGAAGGGAAGGGAAGA,GGAAGAGAAGGGAAGGGAAGGGAAGA
33256.99
2
158104962
.
GA
G
24070.59
2
158104964
rs774514776
AGGGAAGGGAAGGGAAGAGAAGGGAAGGGAAGGGAG
A,GGGGAAGGGAAGGGAAGAGAAGGGAAGGGAAGGGAG
336827
2
158104965
.
GGGAAGGGAAGGGAAGAGAAGGGAA
G,TGGAAGGGAAGGGAAGAGAAGGGAA
337204.03
2
158104966
.
GGAAGGGAAGGGAAGA
G,AGAAGGGAAGGGAAGA
339650.84
2
158104967
.
GA
G
384363.42
2
158104969
rs13415348
AGGGAAGGGAAGAGAAGGGAAGGGAAGGGAG
GGGGAAGGGAAGAGAAGGGAAGGGAAGGGAG,A
357266.77
2
158104970
.
GGGAAGGGAAGAGAAGGGAA
G
384140.38
2
158104971
.
GGAAGGGAAGA
G
393276.96
2
158104972
.
GA
G
392880.60
2
158104974
.
AGGGAAGAGAAGGGAAGGGAAGGGAG
GGGGAAGAGAAGGGAAGGGAAGGGAG,A
395642.75
2
158104975
.
GGGAAGAGAAGGGAA
G
394114.55
2
158104976
rs13024270
GGAAGA
G,AGAAGA
451396.70
2
158104977
.
GAAGAGA
G,GAGAGA
451945.62
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
158104921
.
G
A
.
2
158104936
rs13426920
G
A
.
2
158104942
rs551963329
G
A
.
2
158104945
.
G
T
.
2
158104950
.
G
T
.
2
158104961
.
G
A
.
2
158104964
rs774514776
AGGGAAGGGAAGGGAAGAGAAGGGAAGGGAAGGGAGGGGAGGGGAG
A
.
2
158104965
.
G
T
.
2
158104969
rs13415348
A
G
.
2
158104970
.
G
T
.
2
158104975
.
G
T
.
2
158104976
rs13024270
G
A
.