PMID: 30661771

Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.

American journal of human genetics
M Ganapathi, LR Padgett, K Yamada, O Devinsky, R Willaert, R Person, PB Au, J Tagoe, M McDonald, D Karlowicz, B Wolf, J Lee, Y Shen, V Okur, L Deng, CA LeDuc, J Wang, A Hanner, RG Mirmira, MH Park, TL Mastracci, WK Chung
2019-02-07

172 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-12786928-GATG-G DHPS c.917_919delTCA p.Ile306delIle InFrameDeletion 8/9 -
16-88600473-C-A ZFPM1 c.2107C>A p.Arg703Arg Synonymous 10/10 -
19-13323124-T-A CACNA1A c.6207+74A>T - IntronicSNV - 43/47
19-13323124-T-C CACNA1A c.6207+74A>G - IntronicSNV - 43/47
14-104605547-C-T KIF26A c.210C>T p.Cys70Cys Synonymous 2/15 -
3-127396116-C-T ABTB1 c.749C>T p.Pro250Leu Missense 8/12 -
15-42375422-C-G PLA2G4D c.646G>C p.Glu216Gln Missense 8/20 -
19-11325924-C-G DOCK6 c.4106+139G>C - IntronicSNV - 32/47
19-11325924-C-A DOCK6 c.4106+139G>T - IntronicSNV - 32/47
17-26864164-A-G FOXN1 c.1657A>G p.Ser553Gly Missense 8/8 -
19-12542772-C-A ZNF443 c.214G>T p.Val72Phe Missense 4/4 -
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
19-11324890-T-C DOCK6 c.4338+61A>G - IntronicSNV - 34/47
19-11324890-T-A DOCK6 c.4338+61A>T - IntronicSNV - 34/47
19-11324890-T-G DOCK6 c.4338+61A>C - IntronicSNV - 34/47
19-11313256-G-T DOCK6 c.5361+4C>A - IntronicSNV - 42/47
19-11313256-G-A DOCK6 c.5361+4C>T - IntronicSNV - 42/47
19-13616693-C-T CACNA1A c.293+53G>A - IntronicSNV - 1/47
19-13616693-C-G CACNA1A c.293+53G>C - IntronicSNV - 1/47
19-11526759-G-A RGL3 c.491C>T p.Ala164Val Missense 5/19 -
15-40710373-CGA-TGG IVD c.1102_1104delCGAinsTGG p.Arg368Trp Missense 11/11 -
19-13865070-C-G CCDC130 c.4-33C>G - IntronicSNV - 2/9
19-12542828-G-C ZNF443 c.192-34C>G - IntronicSNV - 3/3
19-13249244-A-G NACC1 c.*24A>G - 3-UTRSNV 6/6 -
19-13445208-C-T CACNA1A c.1182G>A p.Glu394Glu Synonymous 8/48 -
19-13866957-T-C CCDC130 c.58-54T>C - IntronicSNV - 3/9
20-62326494-A-T RTEL1 c.3491A>T p.Tyr1164Phe Missense 33/35 -
15-40707615-C-A IVD c.813C>A p.Val271Val Synonymous 8/11 -
19-13865070-C-T CCDC130 c.4-33C>T - IntronicSNV - 2/9
15-40707615-C-G IVD c.804C>G p.Val271Val Synonymous 8/11 -
19-12502457-A-G ZNF799 c.755T>C p.Leu252Pro Missense 4/4 -
19-11541685-G-A CCDC151 c.366+34C>T - IntronicSNV - 2/12
19-12576049-G-A ZNF709 c.687C>T p.Cys229Cys Synonymous 4/4 -
19-12768391-G-A MAN2B1 c.1310-22C>T - IntronicSNV - 10/23
19-11224265-A-G LDLR c.1413A>G p.Arg471Arg Synonymous 10/18 -
19-11541712-T-C CCDC151 c.366+7A>G - IntronicSNV - 2/12
15-40707615-C-T IVD c.804C>T p.Val271Val Synonymous 8/11 -
19-11230881-T-C LDLR c.1959T>C p.Val653Val Synonymous 13/18 -
19-11319491-G-A DOCK6 c.4959C>T p.Asn1653Asn Synonymous 39/48 -
19-13029188-G-A SYCE2 c.16-37C>T - IntronicSNV - 1/5
14-104638091-A-C KIF26A c.1145A>C p.Gln382Pro Missense 6/15 -
19-12542828-G-A ZNF443 c.192-34C>T - IntronicSNV - 3/3
19-12541795-C-A ZNF443 c.1191G>T p.Gln397His Missense 4/4 -
2-220473131-C-T STK11IP c.1615C>T p.Gln539* Nonsense 15/25 -
7-72892095-T-G BAZ1B c.1696A>C p.Arg566Arg Synonymous 7/20 -
19-11326119-A-T DOCK6 c.4050T>A p.Asn1350Lys Missense 32/48 -
19-12792562-G-C DHPS c.19C>G p.Arg7Gly Missense 1/9 -
8-106813942-G-A ZFPM2 c.1632G>A p.Met544Ile Missense 8/8 -
19-13255536-T-G STX10 c.578+42A>C - IntronicSNV - 6/7
19-11326125-C-T DOCK6 c.4044G>A p.Pro1348Pro Synonymous 32/48 -
19-11224491-A-G LDLR c.1586+53A>G - IntronicSNV - 10/17
19-11327626-A-G DOCK6 c.3858T>C p.Asp1286Asp Synonymous 30/48 -
19-12787939-C-T DHPS c.871G>A p.Ala291Thr Missense 7/9 -
19-11221457-G-C LDLR c.1060+10G>C - IntronicSNV - 7/17
19-11277232-G-A KANK2 c.*2C>T - 3-UTRSNV 11/11 -
10-115609762-G-C DCLRE1A c.1102C>G p.Arg368Gly Missense 2/9 -
19-11943697-G-A ZNF440 c.1706G>A p.Ser569Asn Missense 4/4 -
17-7099857-T-C DLG4 c.1250A>G p.Gln417Arg Missense 12/22 -
19-12787921-C-T DHPS c.888+1G>A - IntronicSNV - 7/8
19-11358799-G-A DOCK6 c.749C>T p.Pro250Leu Missense 7/48 -
15-96880753-T-G NR2F2 c.748T>G p.Phe250Val Missense 3/3 -
19-13002400-G-C GCDH c.127+64G>C - IntronicSNV - 3/11
19-12786830-C-T DHPS c.1014+1G>A - IntronicSNV - 8/8
7-105148593-G-A PUS7 c.367C>T p.His123Tyr Missense 2/16 -
19-12542654-T-A ZNF443 c.332A>T p.Lys111Ile Missense 4/4 -
19-12786738-C-G DHPS c.1024G>C p.Asp342His Missense 9/9 -
19-11277232-G-T KANK2 c.*2C>A - 3-UTRSNV 11/11 -
15-42373292-G-A PLA2G4D c.997C>T p.Arg333Trp Missense 12/20 -
19-13879622-T-A MRI1 c.584-16T>A - IntronicSNV - 4/5
19-13039284-A-G FARSA c.726-13T>C - IntronicSNV - 6/12
19-11285390-G-A KANK2 c.1873-22C>T - IntronicSNV - 6/10
16-88600139-C-T ZFPM1 c.1773C>T p.Asn591Asn Synonymous 10/10 -
19-11326629-C-A DOCK6 c.3895-26G>T - IntronicSNV - 30/47
8-106813942-G-T ZFPM2 c.1632G>T p.Met544Ile Missense 8/8 -
10-89725199-A-G PTEN c.1182A>G p.Glu394Glu Synonymous 9/9 -
19-12542355-A-G ZNF443 c.631T>C p.Leu211Leu Synonymous 4/4 -
19-13883099-A-G MRI1 c.*4A>G - 3-UTRSNV 6/6 -
19-12542653-T-A ZNF443 c.333A>T p.Lys111Asn Missense 4/4 -
19-12542653-T-G ZNF443 c.333A>C p.Lys111Asn Missense 4/4 -
19-11465129-C-T CCDC159 c.773-127C>T - IntronicSNV - 9/10
16-88600598-C-T ZFPM1 c.2232C>T p.Arg744Arg Synonymous 10/10 -
16-88600598-C-G ZFPM1 c.2232C>G p.Arg744Arg Synonymous 10/10 -
16-88600233-CGC-TGG ZFPM1 c.1867_1869delCGCinsTGG p.Arg623Trp Missense 10/10 -
19-12551789-A-C ZNF443 c.1-61T>G - 5-UTRSNV 1/4 -
19-12551789-A-G ZNF443 c.1-61T>C - 5-UTRSNV 1/4 -
7-105148683-A-G PUS7 c.277T>C p.Cys93Arg Missense 2/16 -
19-13411482-G-A CACNA1A c.2185-12C>T - IntronicSNV - 17/47
19-12792579-A-G DHPS c.2T>C p.Met1Thr Missense 1/9 -
19-11326119-A-G DOCK6 c.4050T>C p.Asn1350Asn Synonymous 32/48 -
19-12402112-C-T ZNF44 c.3+3395G>A - IntronicSNV - 1/3
19-12541795-C-T ZNF443 c.1191G>A p.Gln397Gln Synonymous 4/4 -
19-13323124-T-G CACNA1A c.6207+74A>C - IntronicSNV - 43/47
19-11446520-T-G RAB3D c.229-61A>C - IntronicSNV - 2/4
3-127396542-C-G ABTB1 c.885C>G p.Asp295Glu Missense 10/12 -
10-89717634-T-C PTEN c.659T>C p.Leu220Pro Missense 7/9 -
19-13866866-T-G CCDC130 c.58-145T>G - IntronicSNV - 3/9
19-12786929-ATGTAAA-A DHPS c.912_917delTTACAT p.Tyr305_ile306del InFrameDeletion 8/9 -
7-72892253-C-T BAZ1B c.1538G>A p.Arg513His Missense 7/20 -
1-17265472-C-T CROCC c.1443C>T p.Asn481Asn Synonymous 12/37 -
19-11233941-A-G LDLR c.2232A>G p.Arg744Arg Synonymous 15/18 -
19-12551715-A-C ZNF443 c.3+11T>G - IntronicSNV - 1/3
1-17265472-C-G CROCC c.1443C>G p.Asn481Lys Missense 12/37 -
16-88599656-A-G ZFPM1 c.1290A>G p.Arg430Arg Synonymous 10/10 -
10-115609762-G-A DCLRE1A c.1102C>T p.Arg368Trp Missense 2/9 -
2-220473308-A-G STK11IP c.1640A>G p.Glu547Gly Missense 15/25 -
19-11224181-C-T LDLR c.1359-30C>T - IntronicSNV - 9/17
17-26862207-G-A FOXN1 c.1618G>A p.Asp540Asn Missense 7/8 -
19-11363146-A-T DOCK6 c.377+12T>A - IntronicSNV - 4/47
19-11224181-C-A LDLR c.1359-30C>A - IntronicSNV - 9/17
16-88600475-G-C ZFPM1 c.2109G>C p.Arg703Arg Synonymous 10/10 -
14-104643169-C-A KIF26A c.4044C>A p.Pro1348Pro Synonymous 12/15 -
19-11465316-G-C CCDC159 c.833G>C p.Cys278Ser Missense 10/11 -
19-12541547-T-G ZNF443 c.1439A>C p.Lys480Thr Missense 4/4 -
16-88600475-G-A ZFPM1 c.2109G>A p.Arg703Arg Synonymous 10/10 -
16-88600475-G-T ZFPM1 c.2109G>T p.Arg703Arg Synonymous 10/10 -
20-44751802-A-C CD40 c.441A>C p.Pro147Pro Synonymous 5/9 -
20-44751802-A-T CD40 c.441A>T p.Pro147Pro Synonymous 5/9 -
20-44751802-A-G CD40 c.441A>G p.Pro147Pro Synonymous 5/9 -
19-11459260-T-G CCDC159 c.22-1070T>G - IntronicSNV - 1/10
19-11891003-G-A ZNF441 c.364G>A p.Val122Ile Missense 4/4 -
14-104645631-G-A KIF26A c.5375G>A p.Arg1792Gln Missense 14/15 -
19-12790510-T-C DHPS c.518A>G p.Asn173Ser Missense 4/9 -
7-72879831-C-G BAZ1B c.3009G>C p.Leu1003Phe Missense 11/20 -
3-127398847-A-G ABTB1 c.1049A>G p.Tyr350Cys Missense 11/12 -
19-13010520-A-G GCDH c.*165A>G - 3-UTRSNV 12/12 -
19-11459260-T-C CCDC159 c.22-1070T>C - IntronicSNV - 1/10
19-11943697-G-C ZNF440 c.1706G>C p.Ser569Thr Missense 4/4 -
19-11327608-T-A DOCK6 c.3876A>T p.Leu1292Leu Synonymous 30/48 -
19-11891003-G-C ZNF441 c.364G>C p.Val122Leu Missense 4/4 -
19-13988416-A-G NANOS3 c.354A>G p.Thr118Thr Synonymous 1/2 -
19-12256358-T-G ZNF625 c.873A>C p.Arg291Arg Synonymous 4/4 -
19-13255536-T-C STX10 c.578+42A>G - IntronicSNV - 6/7
20-62326494-A-G RTEL1 c.3491A>G p.Tyr1164Cys Missense 33/35 -
19-12792580-T-C DHPS c.1A>G p.Met1Val Missense 1/9 -
3-127391808-T-G ABTB1 c.1-61T>G - 5-UTRSNV 1/12 -
19-13616693-C-A CACNA1A c.293+53G>T - IntronicSNV - 1/47
19-11327608-T-C DOCK6 c.3876A>G p.Leu1292Leu Synonymous 30/48 -
16-88599654-A-C ZFPM1 c.1288A>C p.Arg430Arg Synonymous 10/10 -
19-11303943-A-G KANK2 c.813T>C p.Val271Val Synonymous 2/11 -
19-11221457-G-A LDLR c.1060+10G>A - IntronicSNV - 7/17
19-12541532-C-A ZNF443 c.1454G>T p.Cys485Phe Missense 4/4 -
19-11526759-G-C RGL3 c.491C>G p.Ala164Gly Missense 5/19 -
16-88600598-C-A ZFPM1 c.2232C>A p.Arg744Arg Synonymous 10/10 -
19-13445144-C-T CACNA1A c.1198+48G>A - IntronicSNV - 8/47
19-12876964-G-C HOOK2 c.1464C>G p.His488Gln Missense 15/23 -
7-103051919-G-C SLC26A5 c.518C>G p.Ala173Gly Missense 6/20 -
19-13008607-G-T GCDH c.1173G>T p.Gly391Gly Synonymous 11/12 -
19-11319491-G-C DOCK6 c.4959C>G p.Asn1653Lys Missense 39/48 -
19-11327571-C-T DOCK6 c.3894+19G>A - IntronicSNV - 30/47
14-104643169-C-T KIF26A c.4044C>T p.Pro1348Pro Synonymous 12/15 -
19-13443770-T-C CACNA1A c.1199-31A>G - IntronicSNV - 8/47
14-104643169-C-G KIF26A c.4044C>G p.Pro1348Pro Synonymous 12/15 -
19-12786931-TA-GC DHPS c.913_914delTAinsGC p.Tyr305Ala Missense 8/9 -
19-12577723-A-T ZNF709 c.4-59T>A - IntronicSNV - 1/3
19-12577723-A-G ZNF709 c.4-59T>C - IntronicSNV - 1/3
1-17270653-C-T CROCC c.1867C>T p.Arg623Trp Missense 14/37 -
19-12551616-C-G ZNF443 c.3+110G>C - IntronicSNV - 1/3
7-72892093-T-C BAZ1B c.1698A>G p.Arg566Arg Synonymous 7/20 -
19-13356150-T-G CACNA1A c.4879-71A>C - IntronicSNV - 30/47
19-11558275-G-A PRKCSH c.871G>A p.Ala291Thr Missense 11/18 -
19-11558275-G-C PRKCSH c.871G>C p.Ala291Pro Missense 11/18 -
9-140056696-TCG-AAC GRIN1 c.1705_1707delTCGinsAAC p.Ser569Asn Missense 12/20 -
19-12551671-G-T ZNF443 c.3+55C>A - IntronicSNV - 1/3
19-12542772-C-T ZNF443 c.214G>A p.Val72Ile Missense 4/4 -
19-11221454-T-C LDLR c.1060+7T>C - IntronicSNV - 7/17
20-62321559-G-A RTEL1 c.2333G>A p.Arg778Gln Missense 25/35 -
16-88580890-G-A ZFPM1 c.364G>A p.Val122Ile Missense 4/10 -
19-12939792-T-A RTBDN c.266-25A>T - IntronicSNV - 3/6
19-12939792-T-C RTBDN c.266-25A>G - IntronicSNV - 3/6
17-7097178-T-C DLG4 c.1657A>G p.Ser553Gly Missense 16/22 -
19-13879622-T-C MRI1 c.584-16T>C - IntronicSNV - 4/5
19-11310920-C-T DOCK6 c.6101+64G>A - IntronicSNV - 47/47