Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	284058
Gene name	KAT8 regulatory NSL complex subunit 1
Gene symbol	KANSL1
Synonyms (NCBI Gene)	C17DELq21.31CENP-36DEL17Q21.31KDVSKIAA1267MSL1v1NSL1hMSL1v1
Chromosome	17
Chromosome location	17q21.31
Summary	This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a

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SNP ID	Visualize variation	Clinical significance	Consequence
rs34878385	C>-,CC	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs149830411	G>A	Uncertain-significance, pathogenic	Stop gained, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs186818985	T>C	Conflicting-interpretations-of-pathogenicity, benign	Intron variant, genic downstream transcript variant
rs281865468	G>A	Pathogenic	Stop gained, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs281865469	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs281865470	C>T	Pathogenic	Splice donor variant
rs281865471	TC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs281865472	GGAT>-	Pathogenic	Frameshift variant, coding sequence variant
rs371321182	C>T	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs551541795	AG>-	Pathogenic	Upstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs748018297	C>-,CC	Pathogenic, uncertain-significance	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, frameshift variant
rs768152581	C>T	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs796052595	C>T	Pathogenic	Splice donor variant
rs796052596	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs796052603	G>A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs797045049	A>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs886039733	A>-	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1057518010	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057518182	CAAT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518659	TTGCTCAAAGT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs1057520050	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064793433	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064794038	->TC	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs1064796289	TGCCCCATCACCTGCTGCCCC>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant, genic downstream transcript variant
rs1064796433	GTGGGTTGAGCAA>CAT	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1304078301	C>-,CCCC,CCCCC	Pathogenic	Inframe insertion, coding sequence variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs1374665357	G>-,GG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1427624649	G>A,C	Pathogenic	Stop gained, missense variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555574888	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555575197	C>A	Pathogenic	Stop gained, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555575405	T>-	Pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555575489	G>-	Pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555575816	C>-	Pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555734136	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555753569	->G	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1567761585	T>-	Pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1567764119	G>-	Pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1568366050	AA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597871799	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs1597872089	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs1597874008	T>-	Pathogenic	Frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs1598441446	CC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

502

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020287	hsa-miR-130b-3p	Sequencing	20371350
MIRT025982	hsa-miR-148a-3p	Sequencing	20371350
MIRT050951	hsa-miR-17-5p	CLASH	23622248
MIRT046344	hsa-miR-23b-3p	CLASH	23622248
MIRT045617	hsa-miR-149-5p	CLASH	23622248
MIRT044368	hsa-miR-106b-5p	CLASH	23622248
MIRT712995	hsa-miR-548av-3p	HITS-CLIP	19536157
MIRT475010	hsa-miR-548g-3p	HITS-CLIP	19536157
MIRT712994	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT725298	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT725297	hsa-miR-6870-3p	HITS-CLIP	19536157
MIRT725296	hsa-miR-623	HITS-CLIP	19536157
MIRT725295	hsa-miR-204-5p	HITS-CLIP	19536157
MIRT725294	hsa-miR-211-5p	HITS-CLIP	19536157
MIRT725293	hsa-miR-4755-5p	HITS-CLIP	19536157
MIRT725292	hsa-miR-5006-3p	HITS-CLIP	19536157
MIRT725291	hsa-miR-521	HITS-CLIP	19536157
MIRT712995	hsa-miR-548av-3p	HITS-CLIP	19536157
MIRT475010	hsa-miR-548g-3p	HITS-CLIP	19536157
MIRT712994	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT712995	hsa-miR-548av-3p	HITS-CLIP	19536157
MIRT475010	hsa-miR-548g-3p	HITS-CLIP	19536157
MIRT712994	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT627930	hsa-miR-4528	HITS-CLIP	23824327
MIRT627929	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT627928	hsa-miR-8067	HITS-CLIP	23824327
MIRT627927	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT627926	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT627925	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT627924	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT627923	hsa-miR-7975	HITS-CLIP	23824327
MIRT627922	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT627921	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT627920	hsa-miR-3685	HITS-CLIP	23824327
MIRT627919	hsa-miR-384	HITS-CLIP	23824327
MIRT627918	hsa-miR-3974	HITS-CLIP	23824327
MIRT627917	hsa-miR-5193	HITS-CLIP	23824327
MIRT627916	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT627915	hsa-miR-3183	HITS-CLIP	23824327
MIRT627914	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT627913	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT287594	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT627912	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT475028	hsa-miR-548ac	PAR-CLIP	20371350
MIRT475027	hsa-miR-548bb-3p	PAR-CLIP	20371350
MIRT475026	hsa-miR-548d-3p	PAR-CLIP	20371350
MIRT475025	hsa-miR-548h-3p	PAR-CLIP	20371350
MIRT475024	hsa-miR-548z	PAR-CLIP	20371350
MIRT475023	hsa-miR-548ae-3p	PAR-CLIP	20371350
MIRT475022	hsa-miR-548ah-3p	PAR-CLIP	20371350
MIRT475021	hsa-miR-548aj-3p	PAR-CLIP	20371350
MIRT475020	hsa-miR-548am-3p	PAR-CLIP	20371350
MIRT475019	hsa-miR-548aq-3p	PAR-CLIP	20371350
MIRT475018	hsa-miR-548j-3p	PAR-CLIP	20371350
MIRT475017	hsa-miR-548x-3p	PAR-CLIP	20371350
MIRT475016	hsa-miR-548a-3p	PAR-CLIP	20371350
MIRT475015	hsa-miR-548ar-3p	PAR-CLIP	20371350
MIRT475014	hsa-miR-548az-3p	PAR-CLIP	20371350
MIRT475013	hsa-miR-548e-3p	PAR-CLIP	20371350
MIRT475012	hsa-miR-548f-3p	PAR-CLIP	20371350
MIRT475011	hsa-miR-4282	PAR-CLIP	20371350
MIRT475010	hsa-miR-548g-3p	PAR-CLIP	20371350
MIRT077371	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT077369	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT077370	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT475009	hsa-miR-1272	PAR-CLIP	20371350
MIRT475008	hsa-miR-1322	PAR-CLIP	20371350
MIRT475007	hsa-miR-5585-3p	PAR-CLIP	20371350
MIRT475006	hsa-miR-1180-3p	PAR-CLIP	20371350
MIRT475005	hsa-miR-4664-3p	PAR-CLIP	20371350
MIRT567103	hsa-miR-4700-3p	PAR-CLIP	20371350
MIRT567104	hsa-miR-4524b-3p	PAR-CLIP	20371350
MIRT077365	hsa-miR-154-3p	PAR-CLIP	20371350
MIRT077366	hsa-miR-487a-3p	PAR-CLIP	20371350
MIRT567102	hsa-miR-4768-3p	PAR-CLIP	20371350
MIRT567101	hsa-miR-4524a-3p	PAR-CLIP	20371350
MIRT567100	hsa-miR-485-3p	PAR-CLIP	20371350
MIRT567099	hsa-miR-539-3p	PAR-CLIP	20371350
MIRT567098	hsa-miR-7855-5p	PAR-CLIP	20371350
MIRT493449	hsa-miR-365b-3p	PAR-CLIP	21572407
MIRT493448	hsa-miR-365a-3p	PAR-CLIP	21572407
MIRT493447	hsa-miR-155-5p	PAR-CLIP	21572407
MIRT493446	hsa-miR-3174	PAR-CLIP	21572407
MIRT493445	hsa-miR-3928-5p	PAR-CLIP	21572407
MIRT493444	hsa-miR-6806-3p	PAR-CLIP	21572407
MIRT493442	hsa-miR-3606-5p	PAR-CLIP	21572407
MIRT493441	hsa-miR-921	PAR-CLIP	21572407
MIRT493440	hsa-miR-127-5p	PAR-CLIP	21572407
MIRT493439	hsa-miR-627-5p	PAR-CLIP	21572407
MIRT493438	hsa-miR-192-3p	PAR-CLIP	21572407
MIRT556844	hsa-miR-4762-3p	PAR-CLIP	21572407
MIRT475023	hsa-miR-548ae-3p	PAR-CLIP	21572407
MIRT475022	hsa-miR-548ah-3p	PAR-CLIP	21572407
MIRT475021	hsa-miR-548aj-3p	PAR-CLIP	21572407
MIRT475020	hsa-miR-548am-3p	PAR-CLIP	21572407
MIRT475019	hsa-miR-548aq-3p	PAR-CLIP	21572407
MIRT475018	hsa-miR-548j-3p	PAR-CLIP	21572407
MIRT475017	hsa-miR-548x-3p	PAR-CLIP	21572407
MIRT475016	hsa-miR-548a-3p	PAR-CLIP	21572407
MIRT475015	hsa-miR-548ar-3p	PAR-CLIP	21572407
MIRT475014	hsa-miR-548az-3p	PAR-CLIP	21572407
MIRT475013	hsa-miR-548e-3p	PAR-CLIP	21572407
MIRT475012	hsa-miR-548f-3p	PAR-CLIP	21572407
MIRT475011	hsa-miR-4282	PAR-CLIP	21572407
MIRT475010	hsa-miR-548g-3p	PAR-CLIP	21572407
MIRT077371	hsa-miR-3606-3p	PAR-CLIP	21572407
MIRT077369	hsa-miR-513a-3p	PAR-CLIP	21572407
MIRT077370	hsa-miR-513c-3p	PAR-CLIP	21572407
MIRT475009	hsa-miR-1272	PAR-CLIP	21572407
MIRT475008	hsa-miR-1322	PAR-CLIP	21572407
MIRT556845	hsa-miR-4756-3p	PAR-CLIP	21572407
MIRT475007	hsa-miR-5585-3p	PAR-CLIP	21572407
MIRT475006	hsa-miR-1180-3p	PAR-CLIP	21572407
MIRT475005	hsa-miR-4664-3p	PAR-CLIP	21572407
MIRT556844	hsa-miR-4762-3p	PAR-CLIP	21572407
MIRT493449	hsa-miR-365b-3p	PAR-CLIP	21572407
MIRT493448	hsa-miR-365a-3p	PAR-CLIP	21572407
MIRT493447	hsa-miR-155-5p	PAR-CLIP	21572407
MIRT493446	hsa-miR-3174	PAR-CLIP	21572407
MIRT493445	hsa-miR-3928-5p	PAR-CLIP	21572407
MIRT493444	hsa-miR-6806-3p	PAR-CLIP	21572407
MIRT493443	hsa-miR-924	PAR-CLIP	21572407
MIRT493442	hsa-miR-3606-5p	PAR-CLIP	21572407
MIRT493441	hsa-miR-921	PAR-CLIP	21572407
MIRT493440	hsa-miR-127-5p	PAR-CLIP	21572407
MIRT493439	hsa-miR-627-5p	PAR-CLIP	21572407
MIRT493438	hsa-miR-192-3p	PAR-CLIP	21572407
MIRT475028	hsa-miR-548ac	PAR-CLIP	21572407
MIRT475027	hsa-miR-548bb-3p	PAR-CLIP	21572407
MIRT475026	hsa-miR-548d-3p	PAR-CLIP	21572407
MIRT475025	hsa-miR-548h-3p	PAR-CLIP	21572407
MIRT475024	hsa-miR-548z	PAR-CLIP	21572407
MIRT475023	hsa-miR-548ae-3p	PAR-CLIP	21572407
MIRT475022	hsa-miR-548ah-3p	PAR-CLIP	21572407
MIRT475021	hsa-miR-548aj-3p	PAR-CLIP	21572407
MIRT475020	hsa-miR-548am-3p	PAR-CLIP	21572407
MIRT475019	hsa-miR-548aq-3p	PAR-CLIP	21572407
MIRT475018	hsa-miR-548j-3p	PAR-CLIP	21572407
MIRT475017	hsa-miR-548x-3p	PAR-CLIP	21572407
MIRT475016	hsa-miR-548a-3p	PAR-CLIP	21572407
MIRT475015	hsa-miR-548ar-3p	PAR-CLIP	21572407
MIRT475014	hsa-miR-548az-3p	PAR-CLIP	21572407
MIRT475013	hsa-miR-548e-3p	PAR-CLIP	21572407
MIRT475012	hsa-miR-548f-3p	PAR-CLIP	21572407
MIRT475011	hsa-miR-4282	PAR-CLIP	21572407
MIRT475010	hsa-miR-548g-3p	PAR-CLIP	21572407
MIRT077371	hsa-miR-3606-3p	PAR-CLIP	21572407
MIRT077369	hsa-miR-513a-3p	PAR-CLIP	21572407
MIRT077370	hsa-miR-513c-3p	PAR-CLIP	21572407
MIRT475009	hsa-miR-1272	PAR-CLIP	21572407
MIRT475008	hsa-miR-1322	PAR-CLIP	21572407
MIRT475007	hsa-miR-5585-3p	PAR-CLIP	21572407
MIRT475006	hsa-miR-1180-3p	PAR-CLIP	21572407
MIRT475005	hsa-miR-4664-3p	PAR-CLIP	21572407
MIRT493449	hsa-miR-365b-3p	PAR-CLIP	24398324
MIRT493448	hsa-miR-365a-3p	PAR-CLIP	24398324
MIRT493447	hsa-miR-155-5p	PAR-CLIP	24398324
MIRT493446	hsa-miR-3174	PAR-CLIP	24398324
MIRT493445	hsa-miR-3928-5p	PAR-CLIP	24398324
MIRT493444	hsa-miR-6806-3p	PAR-CLIP	24398324
MIRT493443	hsa-miR-924	PAR-CLIP	24398324
MIRT493442	hsa-miR-3606-5p	PAR-CLIP	24398324
MIRT493441	hsa-miR-921	PAR-CLIP	24398324
MIRT493440	hsa-miR-127-5p	PAR-CLIP	24398324
MIRT493439	hsa-miR-627-5p	PAR-CLIP	24398324
MIRT493438	hsa-miR-192-3p	PAR-CLIP	24398324
MIRT475028	hsa-miR-548ac	PAR-CLIP	24398324
MIRT475027	hsa-miR-548bb-3p	PAR-CLIP	24398324
MIRT475026	hsa-miR-548d-3p	PAR-CLIP	24398324
MIRT475025	hsa-miR-548h-3p	PAR-CLIP	24398324
MIRT475024	hsa-miR-548z	PAR-CLIP	24398324
MIRT475023	hsa-miR-548ae-3p	PAR-CLIP	24398324
MIRT475022	hsa-miR-548ah-3p	PAR-CLIP	24398324
MIRT475021	hsa-miR-548aj-3p	PAR-CLIP	24398324
MIRT475020	hsa-miR-548am-3p	PAR-CLIP	24398324
MIRT475019	hsa-miR-548aq-3p	PAR-CLIP	24398324
MIRT475018	hsa-miR-548j-3p	PAR-CLIP	24398324
MIRT475017	hsa-miR-548x-3p	PAR-CLIP	24398324
MIRT475016	hsa-miR-548a-3p	PAR-CLIP	24398324
MIRT475015	hsa-miR-548ar-3p	PAR-CLIP	24398324
MIRT475014	hsa-miR-548az-3p	PAR-CLIP	24398324
MIRT475013	hsa-miR-548e-3p	PAR-CLIP	24398324
MIRT475012	hsa-miR-548f-3p	PAR-CLIP	24398324
MIRT475011	hsa-miR-4282	PAR-CLIP	24398324
MIRT475010	hsa-miR-548g-3p	PAR-CLIP	24398324
MIRT077371	hsa-miR-3606-3p	PAR-CLIP	24398324
MIRT077369	hsa-miR-513a-3p	PAR-CLIP	24398324
MIRT077370	hsa-miR-513c-3p	PAR-CLIP	24398324
MIRT475009	hsa-miR-1272	PAR-CLIP	24398324
MIRT475008	hsa-miR-1322	PAR-CLIP	24398324
MIRT475007	hsa-miR-5585-3p	PAR-CLIP	24398324
MIRT475006	hsa-miR-1180-3p	PAR-CLIP	24398324
MIRT475005	hsa-miR-4664-3p	PAR-CLIP	24398324
MIRT493449	hsa-miR-365b-3p	PAR-CLIP	23592263
MIRT493448	hsa-miR-365a-3p	PAR-CLIP	23592263
MIRT493447	hsa-miR-155-5p	PAR-CLIP	23592263
MIRT493446	hsa-miR-3174	PAR-CLIP	23592263
MIRT493445	hsa-miR-3928-5p	PAR-CLIP	23592263
MIRT493444	hsa-miR-6806-3p	PAR-CLIP	23592263
MIRT493443	hsa-miR-924	PAR-CLIP	23592263
MIRT493442	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT493441	hsa-miR-921	PAR-CLIP	23592263
MIRT493440	hsa-miR-127-5p	PAR-CLIP	23592263
MIRT493439	hsa-miR-627-5p	PAR-CLIP	23592263
MIRT493438	hsa-miR-192-3p	PAR-CLIP	23592263
MIRT475028	hsa-miR-548ac	PAR-CLIP	23592263
MIRT475027	hsa-miR-548bb-3p	PAR-CLIP	23592263
MIRT475026	hsa-miR-548d-3p	PAR-CLIP	23592263
MIRT475025	hsa-miR-548h-3p	PAR-CLIP	23592263
MIRT475024	hsa-miR-548z	PAR-CLIP	23592263
MIRT475023	hsa-miR-548ae-3p	PAR-CLIP	23592263
MIRT475022	hsa-miR-548ah-3p	PAR-CLIP	23592263
MIRT475021	hsa-miR-548aj-3p	PAR-CLIP	23592263
MIRT475020	hsa-miR-548am-3p	PAR-CLIP	23592263
MIRT475019	hsa-miR-548aq-3p	PAR-CLIP	23592263
MIRT475018	hsa-miR-548j-3p	PAR-CLIP	23592263
MIRT475017	hsa-miR-548x-3p	PAR-CLIP	23592263
MIRT475016	hsa-miR-548a-3p	PAR-CLIP	23592263
MIRT475015	hsa-miR-548ar-3p	PAR-CLIP	23592263
MIRT475014	hsa-miR-548az-3p	PAR-CLIP	23592263
MIRT475013	hsa-miR-548e-3p	PAR-CLIP	23592263
MIRT475012	hsa-miR-548f-3p	PAR-CLIP	23592263
MIRT475011	hsa-miR-4282	PAR-CLIP	23592263
MIRT475010	hsa-miR-548g-3p	PAR-CLIP	23592263
MIRT077371	hsa-miR-3606-3p	PAR-CLIP	23592263
MIRT077369	hsa-miR-513a-3p	PAR-CLIP	23592263
MIRT077370	hsa-miR-513c-3p	PAR-CLIP	23592263
MIRT475009	hsa-miR-1272	PAR-CLIP	23592263
MIRT475008	hsa-miR-1322	PAR-CLIP	23592263
MIRT475007	hsa-miR-5585-3p	PAR-CLIP	23592263
MIRT475006	hsa-miR-1180-3p	PAR-CLIP	23592263
MIRT475005	hsa-miR-4664-3p	PAR-CLIP	23592263
MIRT475004	hsa-miR-5683	PAR-CLIP	23592263
MIRT475003	hsa-miR-449b-3p	PAR-CLIP	23592263
MIRT475002	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT475001	hsa-miR-6871-5p	PAR-CLIP	23592263
MIRT475000	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT474999	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT474998	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT474997	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT474995	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT474996	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT474994	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT474993	hsa-miR-6835-5p	PAR-CLIP	23592263
MIRT474992	hsa-miR-6881-5p	PAR-CLIP	23592263
MIRT474991	hsa-miR-555	PAR-CLIP	23592263
MIRT474990	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT474989	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT474988	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT474987	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT474986	hsa-miR-3689c	PAR-CLIP	23592263
MIRT474985	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT474984	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT474983	hsa-miR-1287-3p	PAR-CLIP	23592263
MIRT712995	hsa-miR-548av-3p	HITS-CLIP	19536157
MIRT475010	hsa-miR-548g-3p	HITS-CLIP	19536157
MIRT712994	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT725298	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT725297	hsa-miR-6870-3p	HITS-CLIP	19536157
MIRT725296	hsa-miR-623	HITS-CLIP	19536157
MIRT725295	hsa-miR-204-5p	HITS-CLIP	19536157
MIRT725294	hsa-miR-211-5p	HITS-CLIP	19536157
MIRT725293	hsa-miR-4755-5p	HITS-CLIP	19536157
MIRT725292	hsa-miR-5006-3p	HITS-CLIP	19536157
MIRT725291	hsa-miR-521	HITS-CLIP	19536157
MIRT712995	hsa-miR-548av-3p	HITS-CLIP	19536157
MIRT475010	hsa-miR-548g-3p	HITS-CLIP	19536157
MIRT712994	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT712995	hsa-miR-548av-3p	HITS-CLIP	19536157
MIRT475010	hsa-miR-548g-3p	HITS-CLIP	19536157
MIRT712994	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT627930	hsa-miR-4528	HITS-CLIP	23824327
MIRT627929	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT627928	hsa-miR-8067	HITS-CLIP	23824327
MIRT627927	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT627926	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT627925	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT627924	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT627923	hsa-miR-7975	HITS-CLIP	23824327
MIRT627922	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT627921	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT627920	hsa-miR-3685	HITS-CLIP	23824327
MIRT627919	hsa-miR-384	HITS-CLIP	23824327
MIRT627918	hsa-miR-3974	HITS-CLIP	23824327
MIRT627917	hsa-miR-5193	HITS-CLIP	23824327
MIRT627916	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT627915	hsa-miR-3183	HITS-CLIP	23824327
MIRT627914	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT627913	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT287594	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT627912	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT475028	hsa-miR-548ac	PAR-CLIP	20371350
MIRT475027	hsa-miR-548bb-3p	PAR-CLIP	20371350
MIRT475026	hsa-miR-548d-3p	PAR-CLIP	20371350
MIRT475025	hsa-miR-548h-3p	PAR-CLIP	20371350
MIRT475024	hsa-miR-548z	PAR-CLIP	20371350
MIRT475023	hsa-miR-548ae-3p	PAR-CLIP	20371350
MIRT475022	hsa-miR-548ah-3p	PAR-CLIP	20371350
MIRT475021	hsa-miR-548aj-3p	PAR-CLIP	20371350
MIRT475020	hsa-miR-548am-3p	PAR-CLIP	20371350
MIRT475019	hsa-miR-548aq-3p	PAR-CLIP	20371350
MIRT475018	hsa-miR-548j-3p	PAR-CLIP	20371350
MIRT475017	hsa-miR-548x-3p	PAR-CLIP	20371350
MIRT475016	hsa-miR-548a-3p	PAR-CLIP	20371350
MIRT475015	hsa-miR-548ar-3p	PAR-CLIP	20371350
MIRT475014	hsa-miR-548az-3p	PAR-CLIP	20371350
MIRT475013	hsa-miR-548e-3p	PAR-CLIP	20371350
MIRT475012	hsa-miR-548f-3p	PAR-CLIP	20371350
MIRT475011	hsa-miR-4282	PAR-CLIP	20371350
MIRT475010	hsa-miR-548g-3p	PAR-CLIP	20371350
MIRT077371	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT077369	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT077370	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT475009	hsa-miR-1272	PAR-CLIP	20371350
MIRT475008	hsa-miR-1322	PAR-CLIP	20371350
MIRT475007	hsa-miR-5585-3p	PAR-CLIP	20371350
MIRT475006	hsa-miR-1180-3p	PAR-CLIP	20371350
MIRT475005	hsa-miR-4664-3p	PAR-CLIP	20371350
MIRT567103	hsa-miR-4700-3p	PAR-CLIP	20371350
MIRT567104	hsa-miR-4524b-3p	PAR-CLIP	20371350
MIRT077365	hsa-miR-154-3p	PAR-CLIP	20371350
MIRT077366	hsa-miR-487a-3p	PAR-CLIP	20371350
MIRT567102	hsa-miR-4768-3p	PAR-CLIP	20371350
MIRT567101	hsa-miR-4524a-3p	PAR-CLIP	20371350
MIRT567100	hsa-miR-485-3p	PAR-CLIP	20371350
MIRT567099	hsa-miR-539-3p	PAR-CLIP	20371350
MIRT567098	hsa-miR-7855-5p	PAR-CLIP	20371350
MIRT493449	hsa-miR-365b-3p	PAR-CLIP	21572407
MIRT493448	hsa-miR-365a-3p	PAR-CLIP	21572407
MIRT493447	hsa-miR-155-5p	PAR-CLIP	21572407
MIRT493446	hsa-miR-3174	PAR-CLIP	21572407
MIRT493445	hsa-miR-3928-5p	PAR-CLIP	21572407
MIRT493444	hsa-miR-6806-3p	PAR-CLIP	21572407
MIRT493442	hsa-miR-3606-5p	PAR-CLIP	21572407
MIRT493441	hsa-miR-921	PAR-CLIP	21572407
MIRT493440	hsa-miR-127-5p	PAR-CLIP	21572407
MIRT493439	hsa-miR-627-5p	PAR-CLIP	21572407
MIRT493438	hsa-miR-192-3p	PAR-CLIP	21572407
MIRT556844	hsa-miR-4762-3p	PAR-CLIP	21572407
MIRT475023	hsa-miR-548ae-3p	PAR-CLIP	21572407
MIRT475022	hsa-miR-548ah-3p	PAR-CLIP	21572407
MIRT475021	hsa-miR-548aj-3p	PAR-CLIP	21572407
MIRT475020	hsa-miR-548am-3p	PAR-CLIP	21572407
MIRT475019	hsa-miR-548aq-3p	PAR-CLIP	21572407
MIRT475018	hsa-miR-548j-3p	PAR-CLIP	21572407
MIRT475017	hsa-miR-548x-3p	PAR-CLIP	21572407
MIRT475016	hsa-miR-548a-3p	PAR-CLIP	21572407
MIRT475015	hsa-miR-548ar-3p	PAR-CLIP	21572407
MIRT475014	hsa-miR-548az-3p	PAR-CLIP	21572407
MIRT475013	hsa-miR-548e-3p	PAR-CLIP	21572407
MIRT475012	hsa-miR-548f-3p	PAR-CLIP	21572407
MIRT475011	hsa-miR-4282	PAR-CLIP	21572407
MIRT475010	hsa-miR-548g-3p	PAR-CLIP	21572407
MIRT077371	hsa-miR-3606-3p	PAR-CLIP	21572407
MIRT077369	hsa-miR-513a-3p	PAR-CLIP	21572407
MIRT077370	hsa-miR-513c-3p	PAR-CLIP	21572407
MIRT475009	hsa-miR-1272	PAR-CLIP	21572407
MIRT475008	hsa-miR-1322	PAR-CLIP	21572407
MIRT556845	hsa-miR-4756-3p	PAR-CLIP	21572407
MIRT475007	hsa-miR-5585-3p	PAR-CLIP	21572407
MIRT475006	hsa-miR-1180-3p	PAR-CLIP	21572407
MIRT475005	hsa-miR-4664-3p	PAR-CLIP	21572407
MIRT556844	hsa-miR-4762-3p	PAR-CLIP	21572407
MIRT493449	hsa-miR-365b-3p	PAR-CLIP	21572407
MIRT493448	hsa-miR-365a-3p	PAR-CLIP	21572407
MIRT493447	hsa-miR-155-5p	PAR-CLIP	21572407
MIRT493446	hsa-miR-3174	PAR-CLIP	21572407
MIRT493445	hsa-miR-3928-5p	PAR-CLIP	21572407
MIRT493444	hsa-miR-6806-3p	PAR-CLIP	21572407
MIRT493443	hsa-miR-924	PAR-CLIP	21572407
MIRT493442	hsa-miR-3606-5p	PAR-CLIP	21572407
MIRT493441	hsa-miR-921	PAR-CLIP	21572407
MIRT493440	hsa-miR-127-5p	PAR-CLIP	21572407
MIRT493439	hsa-miR-627-5p	PAR-CLIP	21572407
MIRT493438	hsa-miR-192-3p	PAR-CLIP	21572407
MIRT475028	hsa-miR-548ac	PAR-CLIP	21572407
MIRT475027	hsa-miR-548bb-3p	PAR-CLIP	21572407
MIRT475026	hsa-miR-548d-3p	PAR-CLIP	21572407
MIRT475025	hsa-miR-548h-3p	PAR-CLIP	21572407
MIRT475024	hsa-miR-548z	PAR-CLIP	21572407
MIRT475023	hsa-miR-548ae-3p	PAR-CLIP	21572407
MIRT475022	hsa-miR-548ah-3p	PAR-CLIP	21572407
MIRT475021	hsa-miR-548aj-3p	PAR-CLIP	21572407
MIRT475020	hsa-miR-548am-3p	PAR-CLIP	21572407
MIRT475019	hsa-miR-548aq-3p	PAR-CLIP	21572407
MIRT475018	hsa-miR-548j-3p	PAR-CLIP	21572407
MIRT475017	hsa-miR-548x-3p	PAR-CLIP	21572407
MIRT475016	hsa-miR-548a-3p	PAR-CLIP	21572407
MIRT475015	hsa-miR-548ar-3p	PAR-CLIP	21572407
MIRT475014	hsa-miR-548az-3p	PAR-CLIP	21572407
MIRT475013	hsa-miR-548e-3p	PAR-CLIP	21572407
MIRT475012	hsa-miR-548f-3p	PAR-CLIP	21572407
MIRT475011	hsa-miR-4282	PAR-CLIP	21572407
MIRT475010	hsa-miR-548g-3p	PAR-CLIP	21572407
MIRT077371	hsa-miR-3606-3p	PAR-CLIP	21572407
MIRT077369	hsa-miR-513a-3p	PAR-CLIP	21572407
MIRT077370	hsa-miR-513c-3p	PAR-CLIP	21572407
MIRT475009	hsa-miR-1272	PAR-CLIP	21572407
MIRT475008	hsa-miR-1322	PAR-CLIP	21572407
MIRT475007	hsa-miR-5585-3p	PAR-CLIP	21572407
MIRT475006	hsa-miR-1180-3p	PAR-CLIP	21572407
MIRT475005	hsa-miR-4664-3p	PAR-CLIP	21572407
MIRT493449	hsa-miR-365b-3p	PAR-CLIP	24398324
MIRT493448	hsa-miR-365a-3p	PAR-CLIP	24398324
MIRT493447	hsa-miR-155-5p	PAR-CLIP	24398324
MIRT493446	hsa-miR-3174	PAR-CLIP	24398324
MIRT493445	hsa-miR-3928-5p	PAR-CLIP	24398324
MIRT493444	hsa-miR-6806-3p	PAR-CLIP	24398324
MIRT493443	hsa-miR-924	PAR-CLIP	24398324
MIRT493442	hsa-miR-3606-5p	PAR-CLIP	24398324
MIRT493441	hsa-miR-921	PAR-CLIP	24398324
MIRT493440	hsa-miR-127-5p	PAR-CLIP	24398324
MIRT493439	hsa-miR-627-5p	PAR-CLIP	24398324
MIRT493438	hsa-miR-192-3p	PAR-CLIP	24398324
MIRT475028	hsa-miR-548ac	PAR-CLIP	24398324
MIRT475027	hsa-miR-548bb-3p	PAR-CLIP	24398324
MIRT475026	hsa-miR-548d-3p	PAR-CLIP	24398324
MIRT475025	hsa-miR-548h-3p	PAR-CLIP	24398324
MIRT475024	hsa-miR-548z	PAR-CLIP	24398324
MIRT475023	hsa-miR-548ae-3p	PAR-CLIP	24398324
MIRT475022	hsa-miR-548ah-3p	PAR-CLIP	24398324
MIRT475021	hsa-miR-548aj-3p	PAR-CLIP	24398324
MIRT475020	hsa-miR-548am-3p	PAR-CLIP	24398324
MIRT475019	hsa-miR-548aq-3p	PAR-CLIP	24398324
MIRT475018	hsa-miR-548j-3p	PAR-CLIP	24398324
MIRT475017	hsa-miR-548x-3p	PAR-CLIP	24398324
MIRT475016	hsa-miR-548a-3p	PAR-CLIP	24398324
MIRT475015	hsa-miR-548ar-3p	PAR-CLIP	24398324
MIRT475014	hsa-miR-548az-3p	PAR-CLIP	24398324
MIRT475013	hsa-miR-548e-3p	PAR-CLIP	24398324
MIRT475012	hsa-miR-548f-3p	PAR-CLIP	24398324
MIRT475011	hsa-miR-4282	PAR-CLIP	24398324
MIRT475010	hsa-miR-548g-3p	PAR-CLIP	24398324
MIRT077371	hsa-miR-3606-3p	PAR-CLIP	24398324
MIRT077369	hsa-miR-513a-3p	PAR-CLIP	24398324
MIRT077370	hsa-miR-513c-3p	PAR-CLIP	24398324
MIRT475009	hsa-miR-1272	PAR-CLIP	24398324
MIRT475008	hsa-miR-1322	PAR-CLIP	24398324
MIRT475007	hsa-miR-5585-3p	PAR-CLIP	24398324
MIRT475006	hsa-miR-1180-3p	PAR-CLIP	24398324
MIRT475005	hsa-miR-4664-3p	PAR-CLIP	24398324
MIRT493449	hsa-miR-365b-3p	PAR-CLIP	23592263
MIRT493448	hsa-miR-365a-3p	PAR-CLIP	23592263
MIRT493447	hsa-miR-155-5p	PAR-CLIP	23592263
MIRT493446	hsa-miR-3174	PAR-CLIP	23592263
MIRT493445	hsa-miR-3928-5p	PAR-CLIP	23592263
MIRT493444	hsa-miR-6806-3p	PAR-CLIP	23592263
MIRT493443	hsa-miR-924	PAR-CLIP	23592263
MIRT493442	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT493441	hsa-miR-921	PAR-CLIP	23592263
MIRT493440	hsa-miR-127-5p	PAR-CLIP	23592263
MIRT493439	hsa-miR-627-5p	PAR-CLIP	23592263
MIRT493438	hsa-miR-192-3p	PAR-CLIP	23592263
MIRT475028	hsa-miR-548ac	PAR-CLIP	23592263
MIRT475027	hsa-miR-548bb-3p	PAR-CLIP	23592263
MIRT475026	hsa-miR-548d-3p	PAR-CLIP	23592263
MIRT475025	hsa-miR-548h-3p	PAR-CLIP	23592263
MIRT475024	hsa-miR-548z	PAR-CLIP	23592263
MIRT475023	hsa-miR-548ae-3p	PAR-CLIP	23592263
MIRT475022	hsa-miR-548ah-3p	PAR-CLIP	23592263
MIRT475021	hsa-miR-548aj-3p	PAR-CLIP	23592263
MIRT475020	hsa-miR-548am-3p	PAR-CLIP	23592263
MIRT475019	hsa-miR-548aq-3p	PAR-CLIP	23592263
MIRT475018	hsa-miR-548j-3p	PAR-CLIP	23592263
MIRT475017	hsa-miR-548x-3p	PAR-CLIP	23592263
MIRT475016	hsa-miR-548a-3p	PAR-CLIP	23592263
MIRT475015	hsa-miR-548ar-3p	PAR-CLIP	23592263
MIRT475014	hsa-miR-548az-3p	PAR-CLIP	23592263
MIRT475013	hsa-miR-548e-3p	PAR-CLIP	23592263
MIRT475012	hsa-miR-548f-3p	PAR-CLIP	23592263
MIRT475011	hsa-miR-4282	PAR-CLIP	23592263
MIRT475010	hsa-miR-548g-3p	PAR-CLIP	23592263
MIRT077371	hsa-miR-3606-3p	PAR-CLIP	23592263
MIRT077369	hsa-miR-513a-3p	PAR-CLIP	23592263
MIRT077370	hsa-miR-513c-3p	PAR-CLIP	23592263
MIRT475009	hsa-miR-1272	PAR-CLIP	23592263
MIRT475008	hsa-miR-1322	PAR-CLIP	23592263
MIRT475007	hsa-miR-5585-3p	PAR-CLIP	23592263
MIRT475006	hsa-miR-1180-3p	PAR-CLIP	23592263
MIRT475005	hsa-miR-4664-3p	PAR-CLIP	23592263
MIRT475004	hsa-miR-5683	PAR-CLIP	23592263
MIRT475003	hsa-miR-449b-3p	PAR-CLIP	23592263
MIRT475002	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT475001	hsa-miR-6871-5p	PAR-CLIP	23592263
MIRT475000	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT474999	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT474998	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT474997	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT474995	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT474996	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT474994	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT474993	hsa-miR-6835-5p	PAR-CLIP	23592263
MIRT474992	hsa-miR-6881-5p	PAR-CLIP	23592263
MIRT474991	hsa-miR-555	PAR-CLIP	23592263
MIRT474990	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT474989	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT474988	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT474987	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT474986	hsa-miR-3689c	PAR-CLIP	23592263
MIRT474985	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT474984	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT474983	hsa-miR-1287-3p	PAR-CLIP	23592263

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000123	Component	Histone acetyltransferase complex	IDA	20018852
GO:0000123	Component	Histone acetyltransferase complex	IEA
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IEA
GO:0000922	Component	Spindle pole	IEA
GO:0005515	Function	Protein binding	IPI	15960975, 16189514, 17043677, 20467437, 21516116, 24788516, 24981860, 25416956, 27705803, 28514442, 31413325, 31515488, 33961781, 37725512
GO:0005634	Component	Nucleus	IDA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	27768893
GO:0005739	Component	Mitochondrion	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0035035	Function	Histone acetyltransferase binding	IBA
GO:0044545	Component	NSL complex	IBA
GO:0044545	Component	NSL complex	IDA	20018852, 27768893, 33657400
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	24842875
GO:0071339	Component	MLL1 complex	IDA	15960975
GO:1902562	Component	H4 histone acetyltransferase complex	IEA
GO:1903108	Process	Regulation of mitochondrial transcription	IDA	27768893

MIM	HGNC	e!Ensembl
612452	24565	ENSG00000120071

Q7Z3B3

Protein name

KAT8 regulatory NSL complex subunit 1 (MLL1/MLL complex subunit KANSL1) (MSL1 homolog 1) (hMSL1v1) (NSL complex protein NSL1) (Non-specific lethal 1 homolog)

Protein function

Non-catalytic component of the NSL histone acetyltransferase complex, a multiprotein complex that mediates histone H4 acetylation at 'Lys-5'- and 'Lys-8' (H4K5ac and H4K8ac) at transcription start sites and promotes transcription initiation (Pub

PDB

4CY1 , 4CY2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15275	PEHE	885 → 1041	PEHE domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the brain. {ECO:0000269|PubMed:11641718}.

Sequence

MAAMAPALTDAAAEAHHIRFKLAPPSSTLSPGSAENNGNANILIAANGTKRKAIAAEDPS
LDFRNNPTKEDLGKLQPLVASYLCSDVTSVPSKESLKLQGVFSKQTVLKSHPLLSQSYEL
RAELLGRQPVLEFSLENLRTMNTSGQTALPQAPVNGLAKKLTKSSTHSDHDNSTSLNGGK
RALTSSALHGGEMGGSESGDLKGGMTNCTLPHRSLDVEHTTLYSNNSTANKSSVNSMEQP
ALQGSSRLSPGTDSSSNLGGVKLEGKKSPLSSILFSALDSDTRITALLRRQADIESRARR
LQKRLQVVQAKQVERHIQHQLGGFLEKTLSKLPNLESLRPRSQLMLTRKAEAALRKAASE
TTTSEGLSNFLKSNSISEELERFTASGIANLRCSEQAFDSDVTDSSSGGESDIEEEELTR
ADPEQRHVPLRRRSEWKWAADRAAIVSRWNWLQAHVSDLEYRIRQQTDIYKQIRANKGLI
VLGEVPPPEHTTDLFLPLSSEVKTDHGTDKLIESVSQPLENHGARIIGHISESLSTKSCG
ALRPVNGVINTLQPVLADHIPGDSSDAEEQLHKKQRLNLVSSSSDGTCVAARTRPVLSCK
KRRLVRPNSIVPLSKKVHRNSTIRPGCDVNPSCALCGSGSINTMPPEIHYEAPLLERLSQ
LDSCVHPVLAFPDDVPTSLHFQSMLKSQWQNKPFDKIKPPKKLSLKHRAPMPGSLPDSAR
KDRHKLVSSFLTTAKLSHHQTRPDRTHRQHLDDVGAVPMVERVTAPKAERLLNPPPPVHD
PNHSKMRLRDHSSERSEVLKHHTDMSSSSYLAATHHPPHSPLVRQLSTSSDSPAPASSSS
QVTASTSQQPVRRRRGESSFDINNIVIPMSVAATTRVEKLQYKEILTPSWREVDLQSLKG
SPDEENEEIEDLSDAAFAALHAKCEEMERARWLWTTSVPPQRRGSRSYRSSDGRTTPQLG
SANPSTPQPASPDVSSSHSLSEYSHGQSPRSPISPELHSAPLTPVARDTPRHLASEDTRC
STPELGLDEQSVQPWERRTFPLAHSPQAECEDQLDAQERAARCTRRTSGSKTGRETEAAP
TSPPIVPLKSRHLVAAATAQRPTHR

Sequence length

1105

Interactions

View interactions

	Reactome
			HATs acetylate histones

1057

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Chromatinopathy	Pathogenic	rs2078389049	RCV001261247
Congenital myopathy	Likely pathogenic; Pathogenic	rs149830411	RCV005625630
Dysplastic corpus callosum	Likely pathogenic	rs2146314496	RCV001391276
Global developmental delay	Pathogenic	rs281865469	RCV001255390
Intellectual disability	Pathogenic	rs1427624649, rs2041984041, rs2046278091	RCV001257584 RCV001257633 RCV001257631
KANSL1-related disorder	Likely pathogenic; Pathogenic	rs2146314756, rs2077221203	RCV003408019 RCV003403743
Koolen-de Vries syndrome	Pathogenic; Likely pathogenic	rs2146659025, rs1018963624, rs2147746137, rs2146658002, rs2146486142, rs2147749507, rs2146946828, rs2146947627, rs2146314563, rs2146314756, rs2077221203, rs1480307304, rs2146370110, rs2146947345, rs2146363405 View all (44 more)	RCV001383965 RCV001788540 RCV001788539 RCV002570832 RCV001730043 RCV001782325 RCV001807912 RCV001814694 RCV001946394 RCV001963272 RCV003093950 RCV002249082 RCV002250062 RCV002251283 RCV003989140 RCV002285128 RCV002302484 RCV000191097 RCV003029383 RCV003326022 RCV002790017 RCV003148285 RCV003159300 RCV003219165 RCV003885325 RCV003455826 RCV003494063 RCV003529631 RCV003643332 RCV003643839 RCV003644409 RCV004017209 RCV004555510 RCV004555736 RCV004577162 RCV004585217 RCV000415114 RCV000024371 RCV000024372 RCV000024373 RCV000024374 RCV000678306 RCV000537695 RCV000576453 RCV000852304 RCV000656400 RCV002470942 RCV000660361 RCV000760235 RCV000760280 RCV000824843 RCV000850564 RCV005633887 RCV001221185 RCV001205472 RCV001215137 RCV001253660 RCV001253770 RCV001260492 RCV001283793
Neurodevelopmental delay	Pathogenic	rs2147733170	RCV002274427
See cases	Likely pathogenic; Pathogenic	rs2146363405, rs2510757178	RCV002254897 RCV003156181
Squamous cell carcinoma of the head and neck	Pathogenic; Likely pathogenic	rs281865470, rs2077066926	RCV005888667 RCV005909308
Uterine corpus endometrial carcinoma	Pathogenic	rs281865470	RCV005888668

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs17575850	RCV005902184
Cervical cancer	Benign	rs73317042	RCV005905753
Craniosynostosis syndrome	Conflicting classifications of pathogenicity	rs202231419	RCV005625400
Developmental disorder	Likely benign	rs2146306637	RCV001843784
Dystonia, early-onset, and/or spastic paraplegia	Benign; Likely benign	rs149566146	RCV005625401
Familial cancer of breast	-; Benign	rs748062988, rs1881193	RCV006118823 RCV005894636
Malignant lymphoma, large B-cell, diffuse	Benign	rs1881193	RCV005894637
Melanoma	Benign; Likely benign	rs149566146	RCV005892178
Neurodevelopmental abnormality	Likely benign	rs1357621164	RCV001264637
Ovarian serous cystadenocarcinoma	Benign	rs17575850	RCV005902185
Sarcoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs200777153, rs199642265	RCV005930511 RCV005901134
Syndromic intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs67801660, rs140510364, rs142756815, rs150500194, rs767830420, rs767896466, rs534448299, rs143625699, rs67641084, rs1057516026, rs72836333	RCV000283300 RCV000261190 RCV000380252 RCV000291638 RCV000395945 RCV000358799 RCV000381128 RCV000289114 RCV000362115 RCV000372203 RCV000282211
Thymoma	Benign	rs17575850	RCV005902186
Thyroid cancer, nonmedullary, 1	Likely benign	rs17576165	RCV005919050
Uterine carcinosarcoma	Benign	rs1881193	RCV005894638

Show/Hide Text Mining Associations (39)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	35589863
Atrophy	Associate	33554913
Attention Deficit Disorder with Hyperactivity	Associate	35052433
Autism Spectrum Disorder	Associate	35052433, 37907504
Brain Diseases	Associate	26293599
Breast Neoplasms	Associate	33503040
Cardiofaciocutaneous syndrome	Associate	26293599
Chromosome 17q21.31 Deletion Syndrome	Associate	21094706, 29225339, 29352316, 33001864, 33050294, 33603161, 34286667, 35811432
Developmental Disabilities	Associate	34286667
DiGeorge Syndrome	Associate	28496102
Endometrial Stromal Tumors	Associate	35575789
Epileptic Encephalopathy Early Infantile 3	Associate	36084525
Heart Defects Congenital	Associate	28496102, 40715143
Intellectual Disability	Associate	26293599, 29352316, 33050294
Leiomyoma	Associate	25621995, 25875009, 28591699, 31027501, 35575789
Leukemia Myeloid Acute	Associate	33560403
Lymphoma Non Hodgkin	Associate	37161535
MASS syndrome	Associate	31027501
Mouth Neoplasms	Associate	28901451
Muscle Hypotonia	Associate	26293599
Musculoskeletal Abnormalities	Associate	26293599
Myelodysplastic Myeloproliferative Diseases	Associate	35038703
Myelodysplastic Syndromes	Associate	35038703
Neoplasms	Associate	25621995, 28423358, 28901451, 30914738, 33503040
Neuroblastoma	Associate	37522749
Ovarian Neoplasms	Associate	31043753
Parkinson Disease	Associate	18509094, 28586827, 31660654, 32829096, 36074904, 37454237, 37522749
Pediatric acute onset neuropsychiatric syndrome	Associate	39394562
Pulmonary Disease Chronic Obstructive	Associate	26423011
Rare Diseases	Associate	35052433
Retroperitoneal Neoplasms	Associate	25875009
Sarcoma	Associate	35575789
Sarcoma Endometrial Stromal	Associate	35575789
Seizures	Associate	29352316
Soft Tissue Injuries	Associate	28591699
Supranuclear Palsy Progressive	Associate	30089514
Urogenital Abnormalities	Associate	26293599
Uterine Diseases	Associate	35575789
Uterine Neoplasms	Associate	35575789

KANSL1 (KAT8 regulatory NSL complex subunit 1)