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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | nonphotosensitive trichothiodystrophy 6 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | nonphotosensitive trichothiodystrophy 6 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Structural insights into transcription initiation by RNA polymerase II. | Grunberg S and Hahn S, Trends Biochem Sci. 2013 Dec;38(12):603-11. doi: 10.1016/j.tibs.2013.09.002. Epub 2013 Oct 11. |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:1939271 | PMID:1956398 | PMID:1956404 | PMID:2026628 | PMID:2251258 | PMID:2449431 | PMID:3029109 | PMID:7651391 | PMID:7876263 | PMID:7926747 | PMID:8152490 | PMID:8628277 |
PMID:8786118 | PMID:8849451 | PMID:8934526 | PMID:8946909 | PMID:8999876 | PMID:9054383 | PMID:9089417 | PMID:9121429 | PMID:9271120 | PMID:9405375 | PMID:9618479 | PMID:9677423 |
PMID:10777215 | PMID:10792464 | PMID:10827951 | PMID:11113176 | PMID:11416139 | PMID:11509574 | PMID:12477932 | PMID:12665589 | PMID:15489334 | PMID:16547462 | PMID:17643375 | PMID:18029348 |
PMID:19106100 | PMID:19210545 | PMID:19861958 | PMID:20125193 | PMID:21244100 | PMID:21489275 | PMID:21832049 | PMID:21873635 | PMID:21988832 | PMID:22404213 | PMID:22658674 | PMID:22678362 |
PMID:22863883 | PMID:22939629 | PMID:23064645 | PMID:23934736 | PMID:25308091 | PMID:25492609 | PMID:26344197 | PMID:26996949 | PMID:27193682 | PMID:27602723 | PMID:27639436 | PMID:28514442 |
PMID:28515276 | PMID:28700943 | PMID:28973399 | PMID:28986522 | PMID:29117863 | PMID:29121065 | PMID:29568061 | PMID:30021884 | PMID:30585729 | PMID:30890647 | PMID:30940648 | PMID:31527615 |
PMID:31527668 | PMID:32296183 | PMID:32416067 | PMID:32645484 | PMID:32694731 | PMID:33658012 | PMID:33916271 | PMID:33957083 | PMID:33961781 | PMID:34079125 | PMID:34373451 | PMID:34581812 |
PMID:34795231 | PMID:34944018 |
GTF2E2 (Homo sapiens - human) |
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Gtf2e2 (Mus musculus - house mouse) |
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Gtf2e2 (Rattus norvegicus - Norway rat) |
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Gtf2e2 (Chinchilla lanigera - long-tailed chinchilla) |
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GTF2E2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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GTF2E2 (Canis lupus familiaris - dog) |
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Gtf2e2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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GTF2E2 (Sus scrofa - pig) |
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GTF2E2 (Chlorocebus sabaeus - green monkey) |
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Gtf2e2 (Heterocephalus glaber - naked mole-rat) |
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G36444 |
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G32125 |
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RH11463 |
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RH93000 |
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RH103819 |
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D8S1862 |
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D8S2166 |
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D8S2241 |
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D8S2214 |
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RH47774 |
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WI-19229 |
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The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 2381 | 1830 | 1598 | 488 | 1466 | 343 | 3683 | 1126 | 2156 | 371 | 1447 | 1606 | 159 | 1200 | 2119 | 4 | ||
Low | 57 | 1157 | 126 | 136 | 484 | 122 | 673 | 1069 | 1560 | 48 | 11 | 5 | 14 | 1 | 4 | 669 | 2 | |
Below cutoff | 2 | 1 | 1 | 13 | 2 | 1 | 2 | 1 |
RefSeq Transcripts | NG_052833 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001348353 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_002095 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011544509 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011544510 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017013363 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017013364 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024447138 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA483281 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC102945 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC103959 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AH010055 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC001775 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC030572 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX421791 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471080 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068270 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S67861 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X63469 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000355904 ⟹ ENSP00000348168 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000518445 ⟹ ENSP00000429312 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000518599 ⟹ ENSP00000429921 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000522833 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000523499 ⟹ ENSP00000428981 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001348353 ⟹ NP_001335282 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_002095 ⟹ NP_002086 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011544509 ⟹ XP_011542811 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011544510 ⟹ XP_011542812 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017013363 ⟹ XP_016868852 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017013364 ⟹ XP_016868853 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_024447138 ⟹ XP_024302906 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001335282 | (Get FASTA) | NCBI Sequence Viewer |
NP_002086 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011542811 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011542812 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016868852 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016868853 | (Get FASTA) | NCBI Sequence Viewer | |
XP_024302906 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAB20414 | (Get FASTA) | NCBI Sequence Viewer |
AAH30572 | (Get FASTA) | NCBI Sequence Viewer | |
CAA45069 | (Get FASTA) | NCBI Sequence Viewer | |
EAW63446 | (Get FASTA) | NCBI Sequence Viewer | |
EAW63447 | (Get FASTA) | NCBI Sequence Viewer | |
EAW63448 | (Get FASTA) | NCBI Sequence Viewer | |
EAW63449 | (Get FASTA) | NCBI Sequence Viewer | |
P29084 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_002086 ⟸ NM_002095 |
- Peptide Label: | isoform 1 |
- UniProtKB: | P29084 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011542811 ⟸ XM_011544509 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_011542812 ⟸ XM_011544510 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_016868853 ⟸ XM_017013364 |
- Peptide Label: | isoform X1 |
- UniProtKB: | P29084 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_016868852 ⟸ XM_017013363 |
- Peptide Label: | isoform X1 |
- UniProtKB: | P29084 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_024302906 ⟸ XM_024447138 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | NP_001335282 ⟸ NM_001348353 |
- Peptide Label: | isoform 2 |
- Sequence: |
RefSeq Acc Id: | ENSP00000429921 ⟸ ENST00000518599 |
RefSeq Acc Id: | ENSP00000429312 ⟸ ENST00000518445 |
RefSeq Acc Id: | ENSP00000428981 ⟸ ENST00000523499 |
RefSeq Acc Id: | ENSP00000348168 ⟸ ENST00000355904 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P29084-F1-model_v2 | AlphaFold | P29084 | 1-291 | view protein structure |
RGD ID: | 6806791 | ||||||||
Promoter ID: | HG_KWN:61052 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | NM_002095 | ||||||||
Position: |
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RGD ID: | 7213035 | ||||||||
Promoter ID: | EPDNEW_H12262 | ||||||||
Type: | initiation region | ||||||||
Name: | GTF2E2_4 | ||||||||
Description: | general transcription factor IIE subunit 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H12263 EPDNEW_H12264 EPDNEW_H12270 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 7213033 | ||||||||
Promoter ID: | EPDNEW_H12263 | ||||||||
Type: | initiation region | ||||||||
Name: | GTF2E2_1 | ||||||||
Description: | general transcription factor IIE subunit 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H12262 EPDNEW_H12264 EPDNEW_H12270 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 | copy number gain | See cases [RCV000050294] | Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3 | copy number gain | See cases [RCV000050995] | Chr8:29719897..48521849 [GRCh38] Chr8:29577413..49434409 [GRCh37] Chr8:29633332..49596962 [NCBI36] Chr8:8p12-q11.21 |
pathogenic |
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 | copy number gain | See cases [RCV000050904] | Chr8:25832130..48521849 [GRCh38] Chr8:25689646..49434409 [GRCh37] Chr8:25745563..49596962 [NCBI36] Chr8:8p21.2-q11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 | copy number gain | See cases [RCV000050912] | Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 | copy number gain | See cases [RCV000051145] | Chr8:12383584..36370018 [GRCh38] Chr8:12241093..36227536 [GRCh37] Chr8:12285464..36347088 [NCBI36] Chr8:8p23.1-12 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 | copy number gain | See cases [RCV000051206] | Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 | copy number gain | See cases [RCV000051110] | Chr8:12728904..41928741 [GRCh38] Chr8:12586413..41786259 [GRCh37] Chr8:12630784..41905416 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 | copy number gain | See cases [RCV000053630] | Chr8:12609975..43336172 [GRCh38] Chr8:12467484..43191315 [GRCh37] Chr8:12511855..43310472 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] | Chr8:12609975..43255410 [GRCh38] Chr8:12467484..43110553 [GRCh37] Chr8:12511855..43229710 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 | copy number gain | See cases [RCV000053632] | Chr8:12750796..43532444 [GRCh38] Chr8:12608305..43387587 [GRCh37] Chr8:12652676..43506744 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 | copy number gain | See cases [RCV000053635] | Chr8:14940110..47929925 [GRCh38] Chr8:14797619..48842485 [GRCh37] Chr8:14841990..49005038 [NCBI36] Chr8:8p22-q11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 | copy number gain | See cases [RCV000053629] | Chr8:12609975..37892000 [GRCh38] Chr8:12467484..37749518 [GRCh37] Chr8:12511855..37868676 [NCBI36] Chr8:8p23.1-11.23 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000053602] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] | Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 | copy number gain | See cases [RCV000053599] | Chr8:96310..30614703 [GRCh38] Chr8:46310..30472220 [GRCh37] Chr8:36310..30591762 [NCBI36] Chr8:8p23.3-12 |
pathogenic |
GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1 | copy number loss | See cases [RCV000054237] | Chr8:24910364..31210737 [GRCh38] Chr8:24767877..31068253 [GRCh37] Chr8:24823781..31187795 [NCBI36] Chr8:8p21.2-12 |
pathogenic |
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) | copy number gain | Abnormal fetal cardiovascular morphology [RCV001291977] | Chr8:176814..43396776 [GRCh37] Chr8:8p23.3-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 | copy number gain | See cases [RCV000135786] | Chr8:12609975..43673207 [GRCh38] Chr8:12467484..43528350 [GRCh37] Chr8:12511855..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 | copy number gain | See cases [RCV000135566] | Chr8:12383584..43673207 [GRCh38] Chr8:12241093..43528350 [GRCh37] Chr8:12285464..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 | copy number gain | See cases [RCV000136516] | Chr8:12728904..40169194 [GRCh38] Chr8:12586413..40026713 [GRCh37] Chr8:12630784..40145870 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1 | copy number loss | See cases [RCV000136120] | Chr8:24910364..31196357 [GRCh38] Chr8:24767877..31053873 [GRCh37] Chr8:24823781..31173415 [NCBI36] Chr8:8p21.2-12 |
pathogenic |
GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1 | copy number loss | See cases [RCV000136878] | Chr8:29362097..40231708 [GRCh38] Chr8:29219614..40089227 [GRCh37] Chr8:29275533..40208384 [NCBI36] Chr8:8p12-11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 | copy number gain | See cases [RCV000137249] | Chr8:12182421..43673207 [GRCh38] Chr8:12039930..43528350 [GRCh37] Chr8:12077339..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 | copy number gain | See cases [RCV000138058] | Chr8:12698495..35476082 [GRCh38] Chr8:12556004..35333600 [GRCh37] Chr8:12600375..35453142 [NCBI36] Chr8:8p23.1-12 |
pathogenic |
GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1 | copy number loss | See cases [RCV000138081] | Chr8:25171103..31750600 [GRCh38] Chr8:25028618..31608116 [GRCh37] Chr8:25084535..31727658 [NCBI36] Chr8:8p21.2-12 |
pathogenic |
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 | copy number gain | See cases [RCV000137807] | Chr8:226452..38021728 [GRCh38] Chr8:176452..37879246 [GRCh37] Chr8:166452..37998403 [NCBI36] Chr8:8p23.3-11.23 |
pathogenic|likely pathogenic |
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 | copy number gain | See cases [RCV000138831] | Chr8:241605..31091074 [GRCh38] Chr8:191605..30948590 [GRCh37] Chr8:181605..31068132 [NCBI36] Chr8:8p23.3-12 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 | copy number gain | See cases [RCV000138643] | Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p12(chr8:30368765-36421541)x3 | copy number gain | See cases [RCV000139926] | Chr8:30368765..36421541 [GRCh38] Chr8:30226281..36279059 [GRCh37] Chr8:30345823..36398222 [NCBI36] Chr8:8p12 |
uncertain significance |
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 | copy number gain | See cases [RCV000139891] | Chr8:7141697..38695546 [GRCh38] Chr8:6999219..38553064 [GRCh37] Chr8:6986629..38672221 [NCBI36] Chr8:8p23.1-11.22 |
pathogenic |
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 | copy number gain | See cases [RCV000139770] | Chr8:12729023..39235934 [GRCh38] Chr8:12586532..39093453 [GRCh37] Chr8:12630903..39212610 [NCBI36] Chr8:8p23.1-11.22 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 | copy number gain | See cases [RCV000139796] | Chr8:12646123..43686843 [GRCh38] Chr8:12503632..43541986 [GRCh37] Chr8:12548003..43661143 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 | copy number gain | See cases [RCV000139549] | Chr8:11851113..37216333 [GRCh38] Chr8:11708622..37073851 [GRCh37] Chr8:11746031..37193009 [NCBI36] Chr8:8p23.1-11.23 |
pathogenic |
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 | copy number gain | See cases [RCV000141410] | Chr8:226452..34491890 [GRCh38] Chr8:176452..34349408 [GRCh37] Chr8:166452..34468950 [NCBI36] Chr8:8p23.3-12 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 | copy number gain | See cases [RCV000141808] | Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 | copy number gain | See cases [RCV000142021] | Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 | copy number gain | See cases [RCV000142858] | Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 | copy number loss | See cases [RCV000142747] | Chr8:18972996..33619264 [GRCh38] Chr8:18830506..33476782 [GRCh37] Chr8:18874786..33596324 [NCBI36] Chr8:8p22-12 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000148092] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 | copy number gain | See cases [RCV000143508] | Chr8:12633490..40685533 [GRCh38] Chr8:12490999..40543052 [GRCh37] Chr8:12535370..40662209 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 | copy number gain | See cases [RCV000148249] | Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 | copy number gain | See cases [RCV000148237] | Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
NM_002095.6(GTF2E2):c.448G>C (p.Ala150Pro) | single nucleotide variant | Trichothiodystrophy 6, nonphotosensitive [RCV000211060] | Chr8:30612400 [GRCh38] Chr8:30469917 [GRCh37] Chr8:8p12 |
pathogenic |
NM_002095.6(GTF2E2):c.559G>T (p.Asp187Tyr) | single nucleotide variant | Trichothiodystrophy 6, nonphotosensitive [RCV000211077] | Chr8:30607141 [GRCh38] Chr8:30464658 [GRCh37] Chr8:8p12 |
pathogenic |
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 | copy number gain | See cases [RCV000511325] | Chr8:12528482..39593802 [GRCh37] Chr8:8p23.1-11.22 |
pathogenic |
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 | copy number gain | See cases [RCV000446588] | Chr8:24772064..24813176 [GRCh37] Chr8:8p21.2-q12.1 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 | copy number gain | See cases [RCV000447507] | Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 | copy number gain | See cases [RCV000447909] | Chr8:158048..43786723 [GRCh37] Chr8:8p23.3-11.1 |
pathogenic |
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 | copy number gain | See cases [RCV000447913] | Chr8:12580132..43388233 [GRCh37] Chr8:8p23.1-11.1 |
pathogenic |
GRCh37/hg19 8p21.2-12(chr8:24514488-34808438) | copy number gain | See cases [RCV000448582] | Chr8:24514488..34808438 [GRCh37] Chr8:8p21.2-12 |
pathogenic |
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 | copy number loss | not provided [RCV000509389] | Chr8:16992973..32612724 [GRCh37] Chr8:8p22-12 |
not provided |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) | copy number gain | See cases [RCV000510234] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 | copy number gain | See cases [RCV000510571] | Chr8:12528482..33684786 [GRCh37] Chr8:8p23.1-12 |
pathogenic |
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 | copy number gain | See cases [RCV000511028] | Chr8:11935023..43824035 [GRCh37] Chr8:8p23.1-11.1 |
pathogenic |
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 | copy number gain | See cases [RCV000510899] | Chr8:11945855..34875355 [GRCh37] Chr8:8p23.1-12 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 | copy number gain | See cases [RCV000511095] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 | copy number gain | See cases [RCV000512169] | Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3 |
pathogenic |
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 | copy number gain | not provided [RCV000683043] | Chr8:12552775..35935825 [GRCh37] Chr8:8p23.1-12 |
pathogenic |
GRCh37/hg19 8p12(chr8:30335124-33770070)x1 | copy number loss | not provided [RCV000683024] | Chr8:30335124..33770070 [GRCh37] Chr8:8p12 |
pathogenic |
GRCh37/hg19 8p12(chr8:29103983-35728509)x1 | copy number loss | not provided [RCV000846377] | Chr8:29103983..35728509 [GRCh37] Chr8:8p12 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 | copy number gain | not provided [RCV000747254] | Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 | copy number gain | not provided [RCV000747248] | Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_002095.6(GTF2E2):c.759+159G>A | single nucleotide variant | not provided [RCV001707069] | Chr8:30580122 [GRCh38] Chr8:30437639 [GRCh37] Chr8:8p12 |
benign |
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 | copy number gain | not provided [RCV000762735] | Chr8:12556004..34374150 [GRCh37] Chr8:8p23.1-12 |
likely pathogenic |
NM_002095.6(GTF2E2):c.377A>G (p.Asn126Ser) | single nucleotide variant | not provided [RCV001888973] | Chr8:30612471 [GRCh38] Chr8:30469988 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.525G>T (p.Leu175=) | single nucleotide variant | not provided [RCV000915205] | Chr8:30612323 [GRCh38] Chr8:30469840 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.549+5T>C | single nucleotide variant | not provided [RCV000880453] | Chr8:30612294 [GRCh38] Chr8:30469811 [GRCh37] Chr8:8p12 |
benign |
NM_002095.6(GTF2E2):c.548A>G (p.Lys183Arg) | single nucleotide variant | not provided [RCV000888459] | Chr8:30612300 [GRCh38] Chr8:30469817 [GRCh37] Chr8:8p12 |
likely benign |
Single allele | duplication | not provided [RCV000768452] | Chr8:12546855..35816855 [GRCh37] Chr8:8p23.1-12 |
likely pathogenic |
NM_002095.6(GTF2E2):c.585C>T (p.Pro195=) | single nucleotide variant | not provided [RCV000919780] | Chr8:30607115 [GRCh38] Chr8:30464632 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.135T>C (p.His45=) | single nucleotide variant | not provided [RCV000902027] | Chr8:30653464 [GRCh38] Chr8:30510981 [GRCh37] Chr8:8p12 |
likely benign |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not provided [RCV000848478] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_002095.6(GTF2E2):c.760-225G>A | single nucleotide variant | not provided [RCV001670287] | Chr8:30579262 [GRCh38] Chr8:30436779 [GRCh37] Chr8:8p12 |
benign |
NM_002095.6(GTF2E2):c.367-108A>G | single nucleotide variant | not provided [RCV001716403] | Chr8:30612589 [GRCh38] Chr8:30470106 [GRCh37] Chr8:8p12 |
benign |
NM_002095.6(GTF2E2):c.367-120T>C | single nucleotide variant | not provided [RCV001620718] | Chr8:30612601 [GRCh38] Chr8:30470118 [GRCh37] Chr8:8p12 |
benign |
NM_002095.6(GTF2E2):c.366+10T>G | single nucleotide variant | not provided [RCV000905396] | Chr8:30614598 [GRCh38] Chr8:30472115 [GRCh37] Chr8:8p12 |
benign |
NM_002095.6(GTF2E2):c.370T>C (p.Leu124=) | single nucleotide variant | not provided [RCV000908976] | Chr8:30612478 [GRCh38] Chr8:30469995 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.259-335del | deletion | not provided [RCV001687491] | Chr8:30615050 [GRCh38] Chr8:30472567 [GRCh37] Chr8:8p12 |
benign |
NM_002095.6(GTF2E2):c.-4-181G>A | single nucleotide variant | not provided [RCV001635719] | Chr8:30653783 [GRCh38] Chr8:30511300 [GRCh37] Chr8:8p12 |
benign |
NM_002095.6(GTF2E2):c.550-125A>T | single nucleotide variant | not provided [RCV001638433] | Chr8:30607275 [GRCh38] Chr8:30464792 [GRCh37] Chr8:8p12 |
benign |
NM_002095.6(GTF2E2):c.549+102A>G | single nucleotide variant | not provided [RCV001693385] | Chr8:30612197 [GRCh38] Chr8:30469714 [GRCh37] Chr8:8p12 |
benign |
GRCh37/hg19 8p12(chr8:30308545-30873238)x3 | copy number gain | not provided [RCV001259471] | Chr8:30308545..30873238 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.398T>C (p.Ile133Thr) | single nucleotide variant | not provided [RCV001316956] | Chr8:30612450 [GRCh38] Chr8:30469967 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.73C>T (p.Arg25Cys) | single nucleotide variant | not provided [RCV001297111] | Chr8:30653526 [GRCh38] Chr8:30511043 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.433G>A (p.Val145Met) | single nucleotide variant | not provided [RCV001326429] | Chr8:30612415 [GRCh38] Chr8:30469932 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.548A>T (p.Lys183Met) | single nucleotide variant | not provided [RCV001346806] | Chr8:30612300 [GRCh38] Chr8:30469817 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.277G>A (p.Asp93Asn) | single nucleotide variant | not provided [RCV001296699] | Chr8:30614697 [GRCh38] Chr8:30472214 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.272G>A (p.Arg91Gln) | single nucleotide variant | not provided [RCV001340310] | Chr8:30614702 [GRCh38] Chr8:30472219 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.93ATC[3] (p.Ser36del) | microsatellite | not provided [RCV001315703] | Chr8:30653495..30653497 [GRCh38] Chr8:30511012..30511014 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.549+11T>G | single nucleotide variant | Trichothiodystrophy 6, nonphotosensitive [RCV001702910]|not provided [RCV001522367] | Chr8:30612288 [GRCh38] Chr8:30469805 [GRCh37] Chr8:8p12 |
benign |
NM_002095.6(GTF2E2):c.550-53del | deletion | not provided [RCV001682272] | Chr8:30607203 [GRCh38] Chr8:30464720 [GRCh37] Chr8:8p12 |
benign |
NM_002095.6(GTF2E2):c.760-298G>A | single nucleotide variant | not provided [RCV001674378] | Chr8:30579335 [GRCh38] Chr8:30436852 [GRCh37] Chr8:8p12 |
benign |
NM_002095.6(GTF2E2):c.550-66dup | duplication | not provided [RCV001537502] | Chr8:30607202..30607203 [GRCh38] Chr8:30464719..30464720 [GRCh37] Chr8:8p12 |
benign |
NM_002095.6(GTF2E2):c.568C>T (p.Leu190=) | single nucleotide variant | not provided [RCV001484552] | Chr8:30607132 [GRCh38] Chr8:30464649 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.473A>G (p.His158Arg) | single nucleotide variant | not provided [RCV001873840] | Chr8:30612375 [GRCh38] Chr8:30469892 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.127G>T (p.Val43Leu) | single nucleotide variant | not provided [RCV001950448] | Chr8:30653472 [GRCh38] Chr8:30510989 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.111GAA[2] (p.Lys40del) | microsatellite | not provided [RCV001964677] | Chr8:30653480..30653482 [GRCh38] Chr8:30510997..30510999 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.533C>T (p.Ser178Phe) | single nucleotide variant | not provided [RCV001913055] | Chr8:30612315 [GRCh38] Chr8:30469832 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.832G>T (p.Ala278Ser) | single nucleotide variant | not provided [RCV001983298] | Chr8:30578965 [GRCh38] Chr8:30436482 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.142T>C (p.Ser48Pro) | single nucleotide variant | not provided [RCV001944558] | Chr8:30653457 [GRCh38] Chr8:30510974 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.866C>G (p.Ser289Cys) | single nucleotide variant | not provided [RCV002014757] | Chr8:30578931 [GRCh38] Chr8:30436448 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.590A>G (p.Lys197Arg) | single nucleotide variant | not provided [RCV001923256] | Chr8:30607110 [GRCh38] Chr8:30464627 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.766A>G (p.Ile256Val) | single nucleotide variant | not provided [RCV001887418] | Chr8:30579031 [GRCh38] Chr8:30436548 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.103T>A (p.Ser35Thr) | single nucleotide variant | not provided [RCV001932039] | Chr8:30653496 [GRCh38] Chr8:30511013 [GRCh37] Chr8:8p12 |
uncertain significance |
NC_000008.10:g.(?_30510930)_(30511115_?)del | deletion | not provided [RCV001976355] | Chr8:30510930..30511115 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.109A>G (p.Lys37Glu) | single nucleotide variant | not provided [RCV002009576] | Chr8:30653490 [GRCh38] Chr8:30511007 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.749C>G (p.Pro250Arg) | single nucleotide variant | not provided [RCV001916119] | Chr8:30580291 [GRCh38] Chr8:30437808 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.58C>G (p.Pro20Ala) | single nucleotide variant | not provided [RCV001977784] | Chr8:30653541 [GRCh38] Chr8:30511058 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.143C>T (p.Ser48Leu) | single nucleotide variant | not provided [RCV001989732] | Chr8:30653456 [GRCh38] Chr8:30510973 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.484G>A (p.Gly162Arg) | single nucleotide variant | not provided [RCV001881338] | Chr8:30612364 [GRCh38] Chr8:30469881 [GRCh37] Chr8:8p12 |
uncertain significance |
NC_000008.10:g.(?_30469796)_(30472252_?)del | deletion | not provided [RCV001917944] | Chr8:30469796..30472252 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.688G>A (p.Glu230Lys) | single nucleotide variant | not provided [RCV001918438] | Chr8:30580352 [GRCh38] Chr8:30437869 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.74G>A (p.Arg25His) | single nucleotide variant | not provided [RCV001997987] | Chr8:30653525 [GRCh38] Chr8:30511042 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.403G>A (p.Gly135Arg) | single nucleotide variant | not provided [RCV002034058] | Chr8:30612445 [GRCh38] Chr8:30469962 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.549+6C>T | single nucleotide variant | not provided [RCV002018028] | Chr8:30612293 [GRCh38] Chr8:30469810 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.673G>A (p.Val225Ile) | single nucleotide variant | not provided [RCV001916131] | Chr8:30580367 [GRCh38] Chr8:30437884 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.412G>A (p.Ala138Thr) | single nucleotide variant | not provided [RCV001870192] | Chr8:30612436 [GRCh38] Chr8:30469953 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.101C>T (p.Ser34Leu) | single nucleotide variant | not provided [RCV001997989] | Chr8:30653498 [GRCh38] Chr8:30511015 [GRCh37] Chr8:8p12 |
uncertain significance |
NC_000008.10:g.(?_30436438)_(31030618_?)dup | duplication | not provided [RCV001975849] | Chr8:30436438..31030618 [GRCh37] Chr8:8p12 |
uncertain significance |
NM_002095.6(GTF2E2):c.167-4G>A | single nucleotide variant | not provided [RCV002087938] | Chr8:30635127 [GRCh38] Chr8:30492644 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.687C>T (p.Asp229=) | single nucleotide variant | not provided [RCV002109269] | Chr8:30580353 [GRCh38] Chr8:30437870 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.657G>A (p.Leu219=) | single nucleotide variant | not provided [RCV002076331] | Chr8:30580383 [GRCh38] Chr8:30437900 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.849T>C (p.Asp283=) | single nucleotide variant | not provided [RCV002190738] | Chr8:30578948 [GRCh38] Chr8:30436465 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.759+8A>G | single nucleotide variant | not provided [RCV002078495] | Chr8:30580273 [GRCh38] Chr8:30437790 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.550-11C>A | single nucleotide variant | not provided [RCV002134523] | Chr8:30607161 [GRCh38] Chr8:30464678 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.258+8C>G | single nucleotide variant | not provided [RCV002151443] | Chr8:30635024 [GRCh38] Chr8:30492541 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.198T>C (p.Ala66=) | single nucleotide variant | not provided [RCV002115832] | Chr8:30635092 [GRCh38] Chr8:30492609 [GRCh37] Chr8:8p12 |
benign |
NM_002095.6(GTF2E2):c.546C>T (p.Val182=) | single nucleotide variant | not provided [RCV002196024] | Chr8:30612302 [GRCh38] Chr8:30469819 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.549+14T>C | single nucleotide variant | not provided [RCV002072785] | Chr8:30612285 [GRCh38] Chr8:30469802 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.451C>T (p.Leu151=) | single nucleotide variant | not provided [RCV002212964] | Chr8:30612397 [GRCh38] Chr8:30469914 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.258+13C>T | single nucleotide variant | not provided [RCV002128628] | Chr8:30635019 [GRCh38] Chr8:30492536 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.549+10_549+11delinsTG | indel | not provided [RCV002171150] | Chr8:30612288..30612289 [GRCh38] Chr8:30469805..30469806 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.282G>A (p.Thr94=) | single nucleotide variant | not provided [RCV002216726] | Chr8:30614692 [GRCh38] Chr8:30472209 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.420G>A (p.Lys140=) | single nucleotide variant | not provided [RCV002161632] | Chr8:30612428 [GRCh38] Chr8:30469945 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.30G>A (p.Glu10=) | single nucleotide variant | not provided [RCV002157623] | Chr8:30653569 [GRCh38] Chr8:30511086 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.318A>C (p.Thr106=) | single nucleotide variant | not provided [RCV002200400] | Chr8:30614656 [GRCh38] Chr8:30472173 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.213T>C (p.Ser71=) | single nucleotide variant | not provided [RCV002123423] | Chr8:30635077 [GRCh38] Chr8:30492594 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.366+16A>G | single nucleotide variant | not provided [RCV002143675] | Chr8:30614592 [GRCh38] Chr8:30472109 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.264G>A (p.Arg88=) | single nucleotide variant | not provided [RCV002119482] | Chr8:30614710 [GRCh38] Chr8:30472227 [GRCh37] Chr8:8p12 |
likely benign |
NM_002095.6(GTF2E2):c.144G>A (p.Ser48=) | single nucleotide variant | not provided [RCV002144229] | Chr8:30653455 [GRCh38] Chr8:30510972 [GRCh37] Chr8:8p12 |
benign |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:4651 | AgrOrtholog |
COSMIC | GTF2E2 | COSMIC |
Ensembl Genes | ENSG00000197265 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSP00000348168 | ENTREZGENE |
ENSP00000348168.4 | UniProtKB/Swiss-Prot | |
ENSP00000428981.1 | UniProtKB/TrEMBL | |
ENSP00000429312.1 | UniProtKB/TrEMBL | |
ENSP00000429921 | ENTREZGENE | |
ENSP00000429921.1 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000355904 | ENTREZGENE |
ENST00000355904.9 | UniProtKB/Swiss-Prot | |
ENST00000518445.1 | UniProtKB/TrEMBL | |
ENST00000518599 | ENTREZGENE | |
ENST00000518599.5 | UniProtKB/TrEMBL | |
ENST00000523499.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.10.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000197265 | GTEx |
HGNC ID | HGNC:4651 | ENTREZGENE |
Human Proteome Map | GTF2E2 | Human Proteome Map |
InterPro | TFA2_Winged_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TFIIE-bsu | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TFIIE_bsu_DNA-bd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WH-like_DNA-bd_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WH_DNA-bd_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:2961 | UniProtKB/Swiss-Prot |
NCBI Gene | 2961 | ENTREZGENE |
OMIM | 189964 | OMIM |
616943 | OMIM | |
PANTHER | PTHR12716 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pfam | TFA2_Winged_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TFIIE_beta | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA29037 | PharmGKB |
PIRSF | TFIIE-beta | UniProtKB/Swiss-Prot |
PROSITE | TFIIE_BETA_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF46785 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | E5RH41_HUMAN | UniProtKB/TrEMBL |
E5RIW4_HUMAN | UniProtKB/TrEMBL | |
E5RK24_HUMAN | UniProtKB/TrEMBL | |
P29084 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | D3DSV2 | UniProtKB/Swiss-Prot |
Q9H2B9 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-11-17 | GTF2E2 | general transcription factor IIE subunit 2 | general transcription factor IIE, polypeptide 2, beta 34kDa | Symbol and/or name change | 5135510 | APPROVED |