Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
3. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
6. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
PMID:10470851 | PMID:10608757 | PMID:10610771 | PMID:11054383 | PMID:11406615 | PMID:12687004 | PMID:12738960 | PMID:14525976 | PMID:14702039 | PMID:15205466 | PMID:15489334 | PMID:15705715 |
PMID:16148947 | PMID:16169070 | PMID:16189514 | PMID:16344560 | PMID:16964243 | PMID:17043677 | PMID:17086175 | PMID:18000879 | PMID:19946888 | PMID:20467437 | PMID:20579884 | PMID:21034848 |
PMID:21241894 | PMID:21639856 | PMID:21873635 | PMID:22049025 | PMID:22420621 | PMID:22595671 | PMID:22658674 | PMID:22939629 | PMID:23300727 | PMID:23948253 | PMID:23956138 | PMID:24169621 |
PMID:24331928 | PMID:25380822 | PMID:25416956 | PMID:25544563 | PMID:25754235 | PMID:25921289 | PMID:26186194 | PMID:26344197 | PMID:26514725 | PMID:26618866 | PMID:26848864 | PMID:26972000 |
PMID:27025610 | PMID:27107014 | PMID:27173435 | PMID:27248496 | PMID:27462432 | PMID:28489961 | PMID:28514442 | PMID:28698570 | PMID:28716898 | PMID:28986522 | PMID:29509190 | PMID:29615496 |
PMID:30021884 | PMID:30833792 | PMID:30917119 | PMID:31073040 | PMID:31091453 | PMID:31913283 | PMID:32296183 | PMID:32513696 | PMID:32658426 | PMID:32838362 | PMID:33542212 | PMID:33766124 |
PMID:33783995 | PMID:33961781 | PMID:34079125 | PMID:34672954 | PMID:35241646 | PMID:35446349 | PMID:35563538 | PMID:35687106 | PMID:35831314 | PMID:35914814 | PMID:35944360 | PMID:36114006 |
PMID:36180527 | PMID:36215168 | PMID:36538041 | PMID:37827155 |
EXOC7 (Homo sapiens - human) |
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Exoc7 (Mus musculus - house mouse) |
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Exoc7 (Rattus norvegicus - Norway rat) |
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Exoc7 (Chinchilla lanigera - long-tailed chinchilla) |
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EXOC7 (Pan paniscus - bonobo/pygmy chimpanzee) |
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EXOC7 (Canis lupus familiaris - dog) |
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Exoc7 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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EXOC7 (Sus scrofa - pig) |
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EXOC7 (Chlorocebus sabaeus - green monkey) |
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Exoc7 (Heterocephalus glaber - naked mole-rat) |
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Variants in EXOC7
59 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_001145297.3(EXOC7):c.808+810G>A | single nucleotide variant | Lung cancer [RCV000100651] | Chr17:76093604 [GRCh38] Chr17:74089685 [GRCh37] Chr17:17q25.1 |
uncertain significance |
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 | copy number gain | See cases [RCV000052486] | Chr17:69209079..83086677 [GRCh38] Chr17:67205220..81044553 [GRCh37] Chr17:64716815..78637842 [NCBI36] Chr17:17q24.3-25.3 |
pathogenic |
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] | Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3 |
pathogenic |
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 | copy number gain | See cases [RCV000143342] | Chr17:69916435..83102552 [GRCh38] Chr17:67912576..81048189 [GRCh37] Chr17:65424171..78653717 [NCBI36] Chr17:17q24.3-25.3 |
pathogenic |
GRCh37/hg19 17q25.1(chr17:73870412-74160099)x3 | copy number gain | See cases [RCV000240272] | Chr17:73870412..74160099 [GRCh37] Chr17:17q25.1 |
uncertain significance |
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 | copy number gain | See cases [RCV000447539] | Chr17:73951701..81041938 [GRCh37] Chr17:17q25.1-25.3 |
pathogenic |
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 | copy number gain | See cases [RCV000447577] | Chr17:64241326..81041938 [GRCh37] Chr17:17q24.2-25.3 |
pathogenic |
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 | copy number gain | See cases [RCV000447823] | Chr17:42580684..81085615 [GRCh37] Chr17:17q21.31-25.3 |
pathogenic |
GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4 | copy number gain | See cases [RCV000510197] | Chr17:73992637..75099218 [GRCh37] Chr17:17q25.1-25.2 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) | copy number gain | See cases [RCV000511439] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 | copy number gain | See cases [RCV000510919] | Chr17:73951701..81041938 [GRCh37] Chr17:17q25.1-25.3 |
pathogenic |
NM_001013839.4(EXOC7):c.1673G>A (p.Arg558Gln) | single nucleotide variant | Inborn genetic diseases [RCV003255330] | Chr17:76085353 [GRCh38] Chr17:74081434 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.999C>A (p.Asp333Glu) | single nucleotide variant | Inborn genetic diseases [RCV003240738] | Chr17:76089223 [GRCh38] Chr17:74085304 [GRCh37] Chr17:17q25.1 |
uncertain significance |
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 | copy number gain | See cases [RCV000512573] | Chr17:67002415..81041938 [GRCh37] Chr17:17q24.2-25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 | copy number gain | See cases [RCV000512441] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 | copy number gain | not provided [RCV000683952] | Chr17:63689671..81041938 [GRCh37] Chr17:17q24.1-25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 | copy number gain | not provided [RCV000739324] | Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 | copy number gain | not provided [RCV000739320] | Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 | copy number gain | not provided [RCV000739325] | Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 | copy number gain | not provided [RCV000762750] | Chr17:64159738..74891024 [GRCh37] Chr17:17q24.1-25.2 |
likely pathogenic |
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3 | copy number gain | not provided [RCV001006919] | Chr17:73261871..78608763 [GRCh37] Chr17:17q25.1-25.3 |
pathogenic |
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 | copy number gain | not provided [RCV000849900] | Chr17:62778720..81041938 [GRCh37] Chr17:17q24.1-25.3 |
pathogenic |
NM_001013839.4(EXOC7):c.1482A>G (p.Leu494=) | single nucleotide variant | not provided [RCV000955473] | Chr17:76086093 [GRCh38] Chr17:74082174 [GRCh37] Chr17:17q25.1 |
benign |
NM_001013839.4(EXOC7):c.1776+1G>A | single nucleotide variant | Neurodevelopmental disorder with seizures and brain atrophy [RCV002471378] | Chr17:76084516 [GRCh38] Chr17:74080597 [GRCh37] Chr17:17q25.1 |
uncertain significance |
GRCh37/hg19 17q25.1(chr17:72718277-74142256) | copy number gain | 7q11.23 microduplication syndrome [RCV003325440] | Chr17:72718277..74142256 [GRCh37] Chr17:17q25.1 |
pathogenic |
NM_001013839.4(EXOC7):c.809-2A>G | single nucleotide variant | Neurodevelopmental disorder with seizures and brain atrophy [RCV001263548] | Chr17:76091237 [GRCh38] Chr17:74087318 [GRCh37] Chr17:17q25.1 |
pathogenic |
NM_001013839.4(EXOC7):c.1059_1073del (p.Asp353_Leu357del) | deletion | Neurodevelopmental disorder with seizures and brain atrophy [RCV001263549] | Chr17:76088898..76088912 [GRCh38] Chr17:74084979..74084993 [GRCh37] Chr17:17q25.1 |
pathogenic |
NM_001013839.4(EXOC7):c.138ATC[1] (p.Ser48del) | microsatellite | Neurodevelopmental disorder with seizures and brain atrophy [RCV001263550] | Chr17:76101847..76101849 [GRCh38] Chr17:74097928..74097930 [GRCh37] Chr17:17q25.1 |
pathogenic |
NM_001013839.4(EXOC7):c.1567G>A (p.Ala523Thr) | single nucleotide variant | Neurodevelopmental disorder with seizures and brain atrophy [RCV001263551] | Chr17:76085726 [GRCh38] Chr17:74081807 [GRCh37] Chr17:17q25.1 |
pathogenic |
NM_001013839.4(EXOC7):c.1169A>T (p.Gln390Leu) | single nucleotide variant | Inborn genetic diseases [RCV002544284]|See cases [RCV001784088] | Chr17:76088802 [GRCh38] Chr17:74084883 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.257A>T (p.His86Leu) | single nucleotide variant | not provided [RCV001816214] | Chr17:76101733 [GRCh38] Chr17:74097814 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.1664G>A (p.Arg555His) | single nucleotide variant | Inborn genetic diseases [RCV002542797]|Neurodevelopmental disorder with seizures and brain atrophy [RCV001837227] | Chr17:76085362 [GRCh38] Chr17:74081443 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.1666T>C (p.Ser556Pro) | single nucleotide variant | not provided [RCV001989520] | Chr17:76085360 [GRCh38] Chr17:74081441 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.948C>T (p.Cys316=) | single nucleotide variant | not provided [RCV002211420] | Chr17:76089274 [GRCh38] Chr17:74085355 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_001013839.4(EXOC7):c.417+41C>G | single nucleotide variant | EXOC7-related condition [RCV003916409]|See cases [RCV002252839]|not provided [RCV003883799] | Chr17:76101230 [GRCh38] Chr17:74097311 [GRCh37] Chr17:17q25.1 |
benign |
GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3 | copy number gain | not provided [RCV002276051] | Chr17:73481509..81043199 [GRCh37] Chr17:17q25.1-25.3 |
pathogenic |
NM_180990.4(ZACN):c.1021G>A (p.Gly341Ser) | single nucleotide variant | Neurodevelopmental disorder with seizures and brain atrophy [RCV002275661] | Chr17:76082022 [GRCh38] Chr17:74078103 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.1879A>G (p.Thr627Ala) | single nucleotide variant | Inborn genetic diseases [RCV003303888] | Chr17:76084079 [GRCh38] Chr17:74080160 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.901+656A>G | single nucleotide variant | EXOC7-related condition [RCV003946355]|Inborn genetic diseases [RCV002687883]|not provided [RCV003420421] | Chr17:76090487 [GRCh38] Chr17:74086568 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_001013839.4(EXOC7):c.1177C>G (p.Pro393Ala) | single nucleotide variant | Inborn genetic diseases [RCV002860075] | Chr17:76088794 [GRCh38] Chr17:74084875 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_180990.4(ZACN):c.769C>T (p.Arg257Trp) | single nucleotide variant | Inborn genetic diseases [RCV002689529] | Chr17:76081644 [GRCh38] Chr17:74077725 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_001013839.4(EXOC7):c.977G>C (p.Ser326Thr) | single nucleotide variant | Inborn genetic diseases [RCV002945743] | Chr17:76089245 [GRCh38] Chr17:74085326 [GRCh37] Chr17:17q25.1 |
benign |
NM_001013839.4(EXOC7):c.560C>A (p.Thr187Asn) | single nucleotide variant | Inborn genetic diseases [RCV002727708] | Chr17:76097876 [GRCh38] Chr17:74093957 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.724A>G (p.Ser242Gly) | single nucleotide variant | Inborn genetic diseases [RCV002945371] | Chr17:76094498 [GRCh38] Chr17:74090579 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.1524C>G (p.Asn508Lys) | single nucleotide variant | Inborn genetic diseases [RCV002818724] | Chr17:76085769 [GRCh38] Chr17:74081850 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.610C>T (p.Arg204Cys) | single nucleotide variant | Inborn genetic diseases [RCV002687927] | Chr17:76097826 [GRCh38] Chr17:74093907 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.228T>A (p.Asn76Lys) | single nucleotide variant | Inborn genetic diseases [RCV002727817] | Chr17:76101762 [GRCh38] Chr17:74097843 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.1629C>G (p.Ile543Met) | single nucleotide variant | Inborn genetic diseases [RCV002882757] | Chr17:76085397 [GRCh38] Chr17:74081478 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_180990.4(ZACN):c.1204G>A (p.Glu402Lys) | single nucleotide variant | Inborn genetic diseases [RCV002798876] | Chr17:76082618 [GRCh38] Chr17:74078699 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_180990.4(ZACN):c.982G>A (p.Gly328Ser) | single nucleotide variant | Inborn genetic diseases [RCV002981640] | Chr17:76081983 [GRCh38] Chr17:74078064 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_001013839.4(EXOC7):c.481C>T (p.His161Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002692250] | Chr17:76097955 [GRCh38] Chr17:74094036 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.817C>T (p.Arg273Cys) | single nucleotide variant | Inborn genetic diseases [RCV002707367] | Chr17:76091227 [GRCh38] Chr17:74087308 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.2033G>A (p.Arg678His) | single nucleotide variant | Inborn genetic diseases [RCV002826193] | Chr17:76083670 [GRCh38] Chr17:74079751 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_180990.4(ZACN):c.983G>T (p.Gly328Val) | single nucleotide variant | Inborn genetic diseases [RCV002983867] | Chr17:76081984 [GRCh38] Chr17:74078065 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.1028C>T (p.Thr343Ile) | single nucleotide variant | Inborn genetic diseases [RCV002787325] | Chr17:76089194 [GRCh38] Chr17:74085275 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.647T>C (p.Met216Thr) | single nucleotide variant | Inborn genetic diseases [RCV002697297] | Chr17:76094575 [GRCh38] Chr17:74090656 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.1159C>T (p.His387Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002696938] | Chr17:76088812 [GRCh38] Chr17:74084893 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.476C>T (p.Thr159Met) | single nucleotide variant | Inborn genetic diseases [RCV002709199] | Chr17:76097960 [GRCh38] Chr17:74094041 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.442G>A (p.Glu148Lys) | single nucleotide variant | Inborn genetic diseases [RCV002807878] | Chr17:76097994 [GRCh38] Chr17:74094075 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.1489T>A (p.Tyr497Asn) | single nucleotide variant | Inborn genetic diseases [RCV002921089] | Chr17:76086086 [GRCh38] Chr17:74082167 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.206A>G (p.Asn69Ser) | single nucleotide variant | Inborn genetic diseases [RCV002670128] | Chr17:76101784 [GRCh38] Chr17:74097865 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.1811G>A (p.Arg604His) | single nucleotide variant | Inborn genetic diseases [RCV002702859] | Chr17:76084255 [GRCh38] Chr17:74080336 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.901+728C>T | single nucleotide variant | Inborn genetic diseases [RCV002679053] | Chr17:76090415 [GRCh38] Chr17:74086496 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.1150A>G (p.Ile384Val) | single nucleotide variant | Inborn genetic diseases [RCV002677706] | Chr17:76088821 [GRCh38] Chr17:74084902 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_180990.4(ZACN):c.820G>A (p.Val274Ile) | single nucleotide variant | Inborn genetic diseases [RCV003254879] | Chr17:76081695 [GRCh38] Chr17:74077776 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.901+733G>A | single nucleotide variant | Inborn genetic diseases [RCV003203557] | Chr17:76090410 [GRCh38] Chr17:74086491 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_180990.4(ZACN):c.1026C>A (p.Asn342Lys) | single nucleotide variant | Inborn genetic diseases [RCV003207701] | Chr17:76082027 [GRCh38] Chr17:74078108 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.922G>A (p.Val308Met) | single nucleotide variant | Inborn genetic diseases [RCV003202727] | Chr17:76089300 [GRCh38] Chr17:74085381 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.1161C>G (p.His387Gln) | single nucleotide variant | Inborn genetic diseases [RCV003265892] | Chr17:76088810 [GRCh38] Chr17:74084891 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.901+792C>T | single nucleotide variant | not provided [RCV003421498] | Chr17:76090351 [GRCh38] Chr17:74086432 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_001013839.4(EXOC7):c.583G>A (p.Val195Met) | single nucleotide variant | not provided [RCV003421499] | Chr17:76097853 [GRCh38] Chr17:74093934 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_001013839.4(EXOC7):c.901+725G>A | single nucleotide variant | Inborn genetic diseases [RCV003355245] | Chr17:76090418 [GRCh38] Chr17:74086499 [GRCh37] Chr17:17q25.1 |
likely benign |
GRCh37/hg19 17q25.1(chr17:74056941-74313663)x3 | copy number gain | not provided [RCV003485165] | Chr17:74056941..74313663 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.555C>T (p.Asp185=) | single nucleotide variant | not provided [RCV003421500] | Chr17:76097881 [GRCh38] Chr17:74093962 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_001013839.4(EXOC7):c.402G>A (p.Pro134=) | single nucleotide variant | not provided [RCV003421501] | Chr17:76101286 [GRCh38] Chr17:74097367 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_001013839.4(EXOC7):c.930C>T (p.Thr310=) | single nucleotide variant | not provided [RCV003421497] | Chr17:76089292 [GRCh38] Chr17:74085373 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_001013839.4(EXOC7):c.1410C>T (p.Gly470=) | single nucleotide variant | not provided [RCV003413345] | Chr17:76087673 [GRCh38] Chr17:74083754 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_001013839.4(EXOC7):c.1818+7C>T | single nucleotide variant | not provided [RCV003428481] | Chr17:76084241 [GRCh38] Chr17:74080322 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_001013839.4(EXOC7):c.1548C>T (p.Tyr516=) | single nucleotide variant | not provided [RCV003428482] | Chr17:76085745 [GRCh38] Chr17:74081826 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_001013839.4(EXOC7):c.1404G>A (p.Thr468=) | single nucleotide variant | not provided [RCV003428483] | Chr17:76087679 [GRCh38] Chr17:74083760 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_001013839.4(EXOC7):c.492C>T (p.Val164=) | single nucleotide variant | not provided [RCV003428484] | Chr17:76097944 [GRCh38] Chr17:74094025 [GRCh37] Chr17:17q25.1 |
likely benign |
NM_001013839.4(EXOC7):c.514G>T (p.Asp172Tyr) | single nucleotide variant | not provided [RCV003542525] | Chr17:76097922 [GRCh38] Chr17:74094003 [GRCh37] Chr17:17q25.1 |
uncertain significance |
NM_001013839.4(EXOC7):c.901+701C>G | single nucleotide variant | not provided [RCV003542526] | Chr17:76090442 [GRCh38] Chr17:74086523 [GRCh37] Chr17:17q25.1 |
uncertain significance |
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. |
EXOC7__7609 |
|
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SHGC-36023 |
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D15S1477 |
|
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 | 2421 | 2813 | 1570 | 474 | 1858 | 315 | 4346 | 2089 | 3605 | 366 | 1441 | 1602 | 175 | 1 | 1204 | 2784 | 6 | 2 |
Low | 18 | 178 | 156 | 150 | 93 | 150 | 11 | 108 | 129 | 53 | 19 | 11 | 4 | |||||
Below cutoff |
RefSeq Transcripts | NG_030672 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001013839 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001145297 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001145298 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001145299 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001282313 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001282314 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001375974 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001375975 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001375976 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_015219 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006721788 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017024397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024450668 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024450669 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024450670 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024450672 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024450673 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024450674 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435690 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047435691 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315596 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315597 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054315598 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001752458 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA215645 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB028990 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC018665 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF067415 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI565863 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI653861 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK000718 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK022397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK022552 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK023832 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK024769 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK098284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK128278 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK295871 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL162005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL834324 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY869728 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC011045 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC015165 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC018466 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC029432 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX647763 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX648435 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CB989148 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471099 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA224278 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC319923 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FJ457119 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FJ457120 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY020675 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000332065 ⟹ ENSP00000333806 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000335146 ⟹ ENSP00000334100 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000357231 ⟹ ENSP00000349767 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000405068 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000405575 ⟹ ENSP00000384368 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000406660 ⟹ ENSP00000385066 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000411744 ⟹ ENSP00000404322 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000420116 ⟹ ENSP00000389950 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000442951 ⟹ ENSP00000389723 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000460476 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000465252 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000467586 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000467929 ⟹ ENSP00000466682 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000486053 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000494787 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000589210 ⟹ ENSP00000468404 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000589507 ⟹ ENSP00000468364 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000591724 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000592559 ⟹ ENSP00000467042 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000607838 ⟹ ENSP00000475431 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000634349 ⟹ ENSP00000489266 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001013839 ⟹ NP_001013861 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001145297 ⟹ NP_001138769 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001145298 ⟹ NP_001138770 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001145299 ⟹ NP_001138771 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001282313 ⟹ NP_001269242 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001282314 ⟹ NP_001269243 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001375974 ⟹ NP_001362903 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001375975 ⟹ NP_001362904 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001375976 ⟹ NP_001362905 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
RefSeq Acc Id: | NM_015219 ⟹ NP_056034 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006721788 ⟹ XP_006721851 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_047435690 ⟹ XP_047291646 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047435691 ⟹ XP_047291647 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054315596 ⟹ XP_054171571 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054315597 ⟹ XP_054171572 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054315598 ⟹ XP_054171573 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001013861 | (Get FASTA) | NCBI Sequence Viewer |
NP_001138769 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001138770 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001138771 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001269242 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001269243 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001362903 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001362904 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001362905 | (Get FASTA) | NCBI Sequence Viewer | |
NP_056034 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006721851 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291646 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047291647 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171571 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171572 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054171573 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAC25180 | (Get FASTA) | NCBI Sequence Viewer |
AAH11045 | (Get FASTA) | NCBI Sequence Viewer | |
AAH15165 | (Get FASTA) | NCBI Sequence Viewer | |
AAH18466 | (Get FASTA) | NCBI Sequence Viewer | |
AAW65095 | (Get FASTA) | NCBI Sequence Viewer | |
ACK36853 | (Get FASTA) | NCBI Sequence Viewer | |
ACK36854 | (Get FASTA) | NCBI Sequence Viewer | |
BAA83019 | (Get FASTA) | NCBI Sequence Viewer | |
BAB14026 | (Get FASTA) | NCBI Sequence Viewer | |
BAB14095 | (Get FASTA) | NCBI Sequence Viewer | |
BAB14694 | (Get FASTA) | NCBI Sequence Viewer | |
BAG58669 | (Get FASTA) | NCBI Sequence Viewer | |
CAD38992 | (Get FASTA) | NCBI Sequence Viewer | |
CAH56185 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89367 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89368 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89369 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89370 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89371 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89372 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89373 | (Get FASTA) | NCBI Sequence Viewer | |
EAW89374 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000333806 | ||
ENSP00000333806.4 | |||
ENSP00000334100 | |||
ENSP00000334100.6 | |||
ENSP00000349767.4 | |||
ENSP00000384368.4 | |||
ENSP00000385066 | |||
ENSP00000385066.3 | |||
ENSP00000389723.1 | |||
ENSP00000389950.1 | |||
ENSP00000404322 | |||
ENSP00000404322.2 | |||
ENSP00000466682 | |||
ENSP00000466682.1 | |||
ENSP00000467042.1 | |||
ENSP00000468364.2 | |||
ENSP00000468404 | |||
ENSP00000468404.1 | |||
ENSP00000475431.2 | |||
ENSP00000489266 | |||
ENSP00000489266.1 | |||
GenBank Protein | Q9UPT5 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_056034 ⟸ NM_015219 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q63HP7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001138770 ⟸ NM_001145298 |
- Peptide Label: | isoform 5 |
- UniProtKB: | Q5G0E1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001013861 ⟸ NM_001013839 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q5G0E1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001138771 ⟸ NM_001145299 |
- Peptide Label: | isoform 6 |
- UniProtKB: | Q5G0E1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001138769 ⟸ NM_001145297 |
- Peptide Label: | isoform 4 |
- UniProtKB: | Q9H9X3 (UniProtKB/Swiss-Prot), Q9H8C3 (UniProtKB/Swiss-Prot), Q96FF0 (UniProtKB/Swiss-Prot), Q8WV91 (UniProtKB/Swiss-Prot), Q8ND93 (UniProtKB/Swiss-Prot), B8XXP2 (UniProtKB/Swiss-Prot), B5MC69 (UniProtKB/Swiss-Prot), Q9HA32 (UniProtKB/Swiss-Prot), Q9UPT5 (UniProtKB/Swiss-Prot), Q5G0E1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001269242 ⟸ NM_001282313 |
- Peptide Label: | isoform 3 |
- UniProtKB: | B4DJ07 (UniProtKB/TrEMBL), Q5G0E1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001269243 ⟸ NM_001282314 |
- Peptide Label: | isoform 7 |
- UniProtKB: | B5MCY9 (UniProtKB/TrEMBL), K7ERQ5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006721851 ⟸ XM_006721788 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q5G0E1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001362904 ⟸ NM_001375975 |
- Peptide Label: | isoform 9 |
- UniProtKB: | Q63HP7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001362903 ⟸ NM_001375974 |
- Peptide Label: | isoform 8 |
- UniProtKB: | Q5G0E1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001362905 ⟸ NM_001375976 |
- Peptide Label: | isoform 10 |
- UniProtKB: | Q5G0E1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSP00000489266 ⟸ ENST00000634349 |
RefSeq Acc Id: | ENSP00000333806 ⟸ ENST00000332065 |
RefSeq Acc Id: | ENSP00000404322 ⟸ ENST00000411744 |
RefSeq Acc Id: | ENSP00000334100 ⟸ ENST00000335146 |
RefSeq Acc Id: | ENSP00000466682 ⟸ ENST00000467929 |
RefSeq Acc Id: | ENSP00000389723 ⟸ ENST00000442951 |
RefSeq Acc Id: | ENSP00000468404 ⟸ ENST00000589210 |
RefSeq Acc Id: | ENSP00000468364 ⟸ ENST00000589507 |
RefSeq Acc Id: | ENSP00000384368 ⟸ ENST00000405575 |
RefSeq Acc Id: | ENSP00000385066 ⟸ ENST00000406660 |
RefSeq Acc Id: | ENSP00000389950 ⟸ ENST00000420116 |
RefSeq Acc Id: | ENSP00000467042 ⟸ ENST00000592559 |
RefSeq Acc Id: | ENSP00000475431 ⟸ ENST00000607838 |
RefSeq Acc Id: | ENSP00000349767 ⟸ ENST00000357231 |
RefSeq Acc Id: | XP_047291646 ⟸ XM_047435690 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_047291647 ⟸ XM_047435691 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054171571 ⟸ XM_054315596 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054171572 ⟸ XM_054315597 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054171573 ⟸ XM_054315598 |
- Peptide Label: | isoform X3 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9UPT5-F1-model_v2 | AlphaFold | Q9UPT5 | 1-735 | view protein structure |
RGD ID: | 6794258 | ||||||||
Promoter ID: | HG_KWN:27154 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000351709, NM_001013839, NM_001145297, NM_001145298, NM_001145299, NM_015219, NR_028133, OTTHUMT00000319765, OTTHUMT00000319771, OTTHUMT00000319772, OTTHUMT00000319773, OTTHUMT00000319774, UC002JQU.1, UC002JQV.1 | ||||||||
Position: |
|
RGD ID: | 7236389 | ||||||||
Promoter ID: | EPDNEW_H23940 | ||||||||
Type: | initiation region | ||||||||
Name: | EXOC7_1 | ||||||||
Description: | exocyst complex component 7 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:23214 | AgrOrtholog |
COSMIC | EXOC7 | COSMIC |
Ensembl Genes | ENSG00000182473 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000332065 | ENTREZGENE |
ENST00000332065.9 | UniProtKB/Swiss-Prot | |
ENST00000335146 | ENTREZGENE | |
ENST00000335146.11 | UniProtKB/Swiss-Prot | |
ENST00000357231.8 | UniProtKB/TrEMBL | |
ENST00000405575.8 | UniProtKB/TrEMBL | |
ENST00000406660 | ENTREZGENE | |
ENST00000406660.4 | UniProtKB/TrEMBL | |
ENST00000411744 | ENTREZGENE | |
ENST00000411744.6 | UniProtKB/Swiss-Prot | |
ENST00000420116.1 | UniProtKB/TrEMBL | |
ENST00000442951.5 | UniProtKB/TrEMBL | |
ENST00000467929 | ENTREZGENE | |
ENST00000467929.6 | UniProtKB/TrEMBL | |
ENST00000589210 | ENTREZGENE | |
ENST00000589210.6 | UniProtKB/Swiss-Prot | |
ENST00000589507.6 | UniProtKB/TrEMBL | |
ENST00000592559.1 | UniProtKB/TrEMBL | |
ENST00000607838.5 | UniProtKB/TrEMBL | |
ENST00000634349 | ENTREZGENE | |
ENST00000634349.1 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | Exocyst complex component Exo70 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000182473 | GTEx |
HGNC ID | HGNC:23214 | ENTREZGENE |
Human Proteome Map | EXOC7 | Human Proteome Map |
InterPro | Cullin_repeat-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Exo70 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Exo70_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:23265 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 23265 | ENTREZGENE |
OMIM | 608163 | OMIM |
PANTHER | EXOCYST COMPLEX COMPONENT 7 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR12542 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Exo70 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Exo70_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA134988420 | PharmGKB |
Superfamily-SCOP | SSF74788 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A0A0MRE1_HUMAN | UniProtKB/TrEMBL |
A0A0A0MSB8_HUMAN | UniProtKB/TrEMBL | |
B4DJ07 | ENTREZGENE, UniProtKB/TrEMBL | |
B5MC69 | ENTREZGENE | |
B5MCY9 | ENTREZGENE, UniProtKB/TrEMBL | |
B8XXP2 | ENTREZGENE | |
C9JKC2_HUMAN | UniProtKB/TrEMBL | |
C9JME6_HUMAN | UniProtKB/TrEMBL | |
EXOC7_HUMAN | UniProtKB/Swiss-Prot | |
K7ENP8_HUMAN | UniProtKB/TrEMBL | |
K7ERQ5 | ENTREZGENE, UniProtKB/TrEMBL | |
Q5G0E1 | ENTREZGENE, UniProtKB/TrEMBL | |
Q63HP7 | ENTREZGENE, UniProtKB/TrEMBL | |
Q8ND93 | ENTREZGENE | |
Q8WV91 | ENTREZGENE | |
Q96BU6_HUMAN | UniProtKB/TrEMBL | |
Q96FF0 | ENTREZGENE | |
Q9H8C3 | ENTREZGENE | |
Q9H9X3 | ENTREZGENE | |
Q9HA32 | ENTREZGENE | |
Q9UPT5 | ENTREZGENE | |
UniProt Secondary | B5MC69 | UniProtKB/Swiss-Prot |
B8XXP2 | UniProtKB/Swiss-Prot | |
Q8ND93 | UniProtKB/Swiss-Prot | |
Q8WV91 | UniProtKB/Swiss-Prot | |
Q96FF0 | UniProtKB/Swiss-Prot | |
Q9H8C3 | UniProtKB/Swiss-Prot | |
Q9H9X3 | UniProtKB/Swiss-Prot | |
Q9HA32 | UniProtKB/Swiss-Prot |