| geneid | 100507096 |
|---|---|
| ensemblid | ENSG00000250298.6 |
| hgncid | 44141 |
| symbol | GIMD1 |
| name | GIMAP family P-loop NTPase domain containing 1 |
| refseq_nuc | NM_001195138.2 |
| refseq_prot | NP_001182067.1 |
| ensembl_nuc | ENST00000638719.4 |
| ensembl_prot | ENSP00000491450.2 |
| mane_status | MANE Select |
| chr | chr4 |
| start | 106357392 |
| end | 106368778 |
| strand | - |
| ver | v1.2 |
| region | chr4:106357392-106368778 |
| region5000 | chr4:106352392-106373778 |
| regionname0 | GIMD1_chr4_106357392_106368778 |
| regionname5000 | GIMD1_chr4_106352392_106373778 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:106360763
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(85): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0009 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0013others(24): Show | 88 | 452 | 0.1947 | 0 | GIMD1 | ENSG00000250298.6 | transcript | ENST00000638719.4 | protein_coding | 2/2 | c.394-2320C>T | ||||||
|
chr4:106363410
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(439): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(144): Show | 442 | 452 | 0.9779 | 0 | GIMD1 | ENSG00000250298.6 | transcript | ENST00000638719.4 | protein_coding | 2/2 | c.393+3633C>A | ||||||
|
chr4:106363883
|
T | TG | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00609.hp1 others(119): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0002others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0020a0001c0001t0001g0021others(30): Show | 122 | 452 | 0.2699 | 1 | GIMD1 | ENSG00000250298.6 | transcript | ENST00000638719.4 | protein_coding | 2/2 | c.393+3159dupC |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GIMD1 | 1/1 | a0001 | 217 | 331 | 64 | 64 | 160 | 14 | 27 | subcellular location copy fasta | chr4 | 106352392 | 106373778 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GIMD1 | 1/1 | c0001 | 654 | 199 | 45 | 39 | 85 | 12 | 16 | copy fasta | chr4 | 106352392 | 106373778 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GIMD1 | 1/1 | t0001 | 863 | 340 | 69 | 68 | 158 | 15 | 28 | copy fasta | chr4 | 106352392 | 106373778 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| GIMD1 | 0/0 | g0021 | 4 | 0 | 2 | 0 | 0 | 2 | chr4 | 106352392 | 106373778 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GIMD1 | 1/1 | a0001c0001 | 199 | 45 | 39 | 85 | 12 | 16 | 654 | copy fasta | chr4 | 106352392 | 106373778 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GIMD1 | 1/1 | a0001c0001t0001 | 196 | 44 | 39 | 83 | 12 | 16 | 1516 | copy fasta | chr4 | 106352392 | 106373778 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| GIMD1 | 0/0 | a0001c0001t0001g0021 | 4 | 0 | 2 | 0 | 0 | 2 | chr4 | 106352392 | 106373778 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 106368710 | - | 1 | -0.2879 | -0.2879 | -0.2879 | 0.0000 | acceptor | a0001c0001t0001g0021 | HG00642.hp1 HG01261.hp2 HG04199.hp2 HG04204.hp2 |
HG00642.hp1 HG01261.hp2 HG04199.hp2 HG04204.hp2 |
GIMD1 | chr4 | 106352392 | 106373778 |
| 106367043 | - | 2 | -0.8462 | -0.8462 | -0.8462 | 0.0000 | acceptor | a0001c0001t0001g0021 | HG00642.hp1 HG01261.hp2 HG04199.hp2 HG04204.hp2 |
HG00642.hp1 HG01261.hp2 HG04199.hp2 HG04204.hp2 |
GIMD1 | chr4 | 106352392 | 106373778 |
| 106367437 | - | 2 | 0.9595 | 0.9595 | 0.9595 | 0.0000 | donor | a0001c0001t0001g0021 | HG00642.hp1 HG01261.hp2 HG04199.hp2 HG04204.hp2 |
HG00642.hp1 HG01261.hp2 HG04199.hp2 HG04204.hp2 |
GIMD1 | chr4 | 106352392 | 106373778 |
| 106358443 | - | 3 | 0.5565 | 0.5565 | 0.5544 | 0.0021 | donor | a0001c0001t0001g0021 | HG00642.hp1 HG01261.hp2 HG04204.hp2 |
HG04199.hp2 | GIMD1 | chr4 | 106352392 | 106373778 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|