NGS de novo Mutation Related Gene List
Gene ID | Gene Symbol | Band | Gene Name | #de novo Studies | Score |
---|---|---|---|---|---|
AutG2770 | GNAI1 | 7q21.11 | guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 | 2 | 2 |
AutG6340 | SCNN1G | 16p12.2 | sodium channel, nonvoltage-gated 1, gamma | 2 | 2 |
AutG55262 | C7orf43 | 7q22.1 | chromosome 7 open reading frame 43 | 2 | 2 |
AutG154865 | IQUB | 7q31.32 | IQ motif and ubiquitin domain containing | 2 | 2 |
AutG4041 | LRP5 | 11q13.2 | low density lipoprotein receptor-related protein 5 | 2 | 2 |
AutG9777 | TM9SF4 | 20q11.21 | transmembrane 9 superfamily protein member 4 | 2 | 2 |
AutG2194 | FASN | 17q25.3 | fatty acid synthase | 2 | 2 |
AutG57555 | NLGN2 | 17p13.1 | neuroligin 2 | 2 | 2 |
AutG5430 | POLR2A | 17p13.1 | polymerase (RNA) II (DNA directed) polypeptide A, 220kDa | 2 | 2 |
AutG22997 | IGSF9B | 11q25 | immunoglobulin superfamily, member 9B | 2 | 2 |
AutG64101 | LRRC4 | 7q32.1 | leucine rich repeat containing 4 | 2 | 2 |
AutG8295 | TRRAP | 7q22.1 | transformation/transcription domain-associated protein | 2 | 2 |
AutG10343 | PKDREJ | 22q13.31 | polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) | 2 | 2 |
AutG55133 | SRBD1 | 2p21 | S1 RNA binding domain 1 | 2 | 2 |
AutG56243 | KIAA1217 | 10p12.2-p12.1 | KIAA1217 | 2 | 2 |
AutG55209 | SETD5 | 3p25.3 | SET domain containing 5 | 2 | 2 |
AutG2626 | GATA4 | 8p23.1 | GATA binding protein 4 | 2 | 2 |
AutG5587 | PRKD1 | 14q12 | protein kinase D1 | 2 | 2 |
AutG7273 | TTN | 2q31.2 | titin | 2 | 2 |
AutG11224 | RPL35 | 9q33.3 | ribosomal protein L35 | 2 | 2 |