Approved Symbol |
Approved Name |
Location |
Source |
PHF5A |
PHD finger protein 5A |
22q13.2 |
Mapped by PBA pathway |
PRPF19 |
PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) |
11q12.2 |
Mapped by significant region |
SNRPD1 |
small nuclear ribonucleoprotein D1 polypeptide 16kDa |
18q11.2 |
Mapped by significant region |
PRPF4 |
PRP4 pre-mRNA processing factor 4 homolog (yeast) |
9q31-q33 |
Mapped by significant region |
CDC40 |
cell division cycle 40 homolog (S. cerevisiae) |
6q22.1 |
Mapped by PBA pathway |
SMNDC1 |
survival motor neuron domain containing 1 |
10q23 |
Mapped by PBA pathway |
HSPA8 |
heat shock 70kDa protein 8 |
11q24.1 |
Mapped by significant region |
SNRPA |
small nuclear ribonucleoprotein polypeptide A |
19q13.1 |
Mapped by PBA pathway |
BCAS2 |
breast carcinoma amplified sequence 2 |
1p13.2 |
Mapped by PBA pathway |
SF3B2 |
splicing factor 3b, subunit 2, 145kDa |
11q13 |
Mapped by PBA pathway; Mapped by significant region |
SNRPD2 |
small nuclear ribonucleoprotein D2 polypeptide 16.5kDa |
19q13.2-q13.3 |
Mapped by PBA pathway |
SNRPF |
small nuclear ribonucleoprotein polypeptide F |
12q23.1 |
Mapped by PBA pathway |
SNRPG |
small nuclear ribonucleoprotein polypeptide G |
2p13.3 |
Mapped by PBA pathway |
SLU7 |
SLU7 splicing factor homolog (S. cerevisiae) |
5q33.3 |
Mapped by PBA pathway; Mapped by significant region |
SNW1 |
SNW domain containing 1 |
14q22.1-q22.3 |
Mapped by PBA pathway |
SNRPA1 |
small nuclear ribonucleoprotein polypeptide A' |
15q26.3 |
Mapped by PBA pathway |
SNRPB |
small nuclear ribonucleoprotein polypeptides B and B1 |
20p13 |
Mapped by PBA pathway |
LSM4 |
LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) |
19p13.1 |
Mapped by PBA pathway |
SNRPB2 |
small nuclear ribonucleoprotein polypeptide B |
20p12.1 |
Mapped by PBA pathway |
SNRPC |
small nuclear ribonucleoprotein polypeptide C |
6p21 |
Mapped by PBA pathway |
DHX15 |
DEAH (Asp-Glu-Ala-His) box polypeptide 15 |
4p15.3 |
Mapped by CNV; Mapped by PBA pathway |
CWC15 |
CWC15 spliceosome-associated protein homolog (S. cerevisiae) |
11q21 |
Mapped by significant region |
HNRNPA1L2 |
heterogeneous nuclear ribonucleoprotein A1-like 2 |
13q14.3 |
Mapped by LD-proxy |
EFTUD2 |
elongation factor Tu GTP binding domain containing 2 |
17q21.31 |
Mapped by PBA pathway |
SART1 |
squamous cell carcinoma antigen recognized by T cells |
11q13.1 |
Mapped by significant region |
SNRPD3 |
small nuclear ribonucleoprotein D3 polypeptide 18kDa |
22q11.23 |
Mapped by CNV; Mapped by PBA pathway |
SF3A1 |
splicing factor 3a, subunit 1, 120kDa |
22q12.2 |
Mapped by PBA pathway |
HNRNPA1 |
heterogeneous nuclear ribonucleoprotein A1 |
12q13.1 |
Mapped by PBA pathway |
NCBP1 |
nuclear cap binding protein subunit 1, 80kDa |
9q34.1 |
Mapped by significant region |
SF3B4 |
splicing factor 3b, subunit 4, 49kDa |
1q21.2 |
Mapped by PBA pathway |
SF3B3 |
splicing factor 3b, subunit 3, 130kDa |
16q22 |
Mapped by PBA pathway |
HNRNPC |
heterogeneous nuclear ribonucleoprotein C (C1/C2) |
14q11 |
Mapped by PBA pathway |
SF3A3 |
splicing factor 3a, subunit 3, 60kDa |
1p |
Mapped by PBA pathway |
SF3A2 |
splicing factor 3a, subunit 2, 66kDa |
19p13.3-p13.2 |
Mapped by PBA pathway |
SRSF8 |
serine/arginine-rich splicing factor 8 |
11q22 |
Mapped by significant region |
HSPA6 |
heat shock 70kDa protein 6 (HSP70B') |
1q23.3 |
Mapped by CNV |
TRA2A |
transformer 2 alpha homolog (Drosophila) |
7p15.3 |
Mapped by CNV; Mapped by significant region |
DDX23 |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 |
12q13.11 |
Mapped by PBA pathway |
SNRNP200 |
small nuclear ribonucleoprotein 200kDa (U5) |
2q11.2 |
Mapped by LD-proxy |
PRPF18 |
PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae) |
10p12.33 |
Mapped by PBA pathway |
PPIH |
peptidylprolyl isomerase H (cyclophilin H) |
1p34.1 |
Mapped by PBA pathway |
U2AF2 |
U2 small nuclear RNA auxiliary factor 2 |
19q13.43 |
Mapped by PBA pathway |
TXNL4A |
thioredoxin-like 4A |
18q23 |
Mapped by PBA pathway |
PRPF6 |
PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) |
20q13.33 |
Mapped by PBA pathway |
U2AF1 |
U2 small nuclear RNA auxiliary factor 1 |
21q22.3 |
Mapped by PBA pathway |
DHX8 |
DEAH (Asp-Glu-Ala-His) box polypeptide 8 |
17q21.31 |
Mapped by PBA pathway |
PRPF8 |
PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) |
17p13.3 |
Mapped by PBA pathway |